dystrophin

Summary

Gene Symbol: dystrophin
Description: dystrophin
Alias: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
Species: human
Products:     dystrophin

Top Publications

  1. Brenman J, Chao D, Xia H, Aldape K, Bredt D. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell. 1995;82:743-52 pubmed
    ..We show that nNOS partitions with skeletal muscle membranes owing to association of nNOS with dystrophin, the protein mutated in Duchenne muscular dystrophy (DMD)...
  2. Sherman D, Fabrizi C, Gillespie C, Brophy P. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron. 2001;30:677-87 pubmed
    Dystroglycan-dystrophin complexes are believed to have structural and signaling functions by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules...
  3. Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard M, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat. 2009;30:1657-66 pubmed publisher
    Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC)...
  4. Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008;9:572 pubmed publisher
    ..2 Mb DMD gene. We studied 12 DMD/BMD patients who either had no detectable mutations or carried previously identified quantitative pathogenic changes in ..
  5. Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, et al. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord. 2007;17:913-8 pubmed
    Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised ..
  6. Magri F, Govoni A, D Angelo M, Del Bo R, Ghezzi S, Sandra G, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol. 2011;258:1610-23 pubmed publisher
    ..presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation...
  7. Legardinier S, Legrand B, Raguénès Nicol C, Bondon A, Hardy S, Tascon C, et al. A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem. 2009;284:8822-32 pubmed publisher
    Lack of functional dystrophin causes severe Duchenne muscular dystrophy...
  8. Tuffery S, Lenk U, Roberts R, Coubes C, Demaille J, Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat. 1995;6:126-35 pubmed
    ..of the mutations responsible for Duchenne muscular dytrophy (DMD) do not involve gross rearrangements of the dystrophin gene...
  9. Oshima J, Magner D, Lee J, Breman A, Schmitt E, White L, et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009;126:411-23 pubmed publisher
    Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements...
  10. Prior T, Papp A, Snyder P, Burghes A, Bartolo C, Sedra M, et al. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet. 1993;4:357-60 pubmed
    ..We now describe what we believe to be the first dystrophin missense mutation in a DMD patient...

Detail Information

Publications62

  1. Brenman J, Chao D, Xia H, Aldape K, Bredt D. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell. 1995;82:743-52 pubmed
    ..We show that nNOS partitions with skeletal muscle membranes owing to association of nNOS with dystrophin, the protein mutated in Duchenne muscular dystrophy (DMD)...
  2. Sherman D, Fabrizi C, Gillespie C, Brophy P. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron. 2001;30:677-87 pubmed
    Dystroglycan-dystrophin complexes are believed to have structural and signaling functions by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules...
  3. Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard M, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat. 2009;30:1657-66 pubmed publisher
    Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC)...
  4. Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008;9:572 pubmed publisher
    ..2 Mb DMD gene. We studied 12 DMD/BMD patients who either had no detectable mutations or carried previously identified quantitative pathogenic changes in ..
  5. Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, et al. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord. 2007;17:913-8 pubmed
    Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised ..
  6. Magri F, Govoni A, D Angelo M, Del Bo R, Ghezzi S, Sandra G, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol. 2011;258:1610-23 pubmed publisher
    ..presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation...
  7. Legardinier S, Legrand B, Raguénès Nicol C, Bondon A, Hardy S, Tascon C, et al. A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem. 2009;284:8822-32 pubmed publisher
    Lack of functional dystrophin causes severe Duchenne muscular dystrophy...
  8. Tuffery S, Lenk U, Roberts R, Coubes C, Demaille J, Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat. 1995;6:126-35 pubmed
    ..of the mutations responsible for Duchenne muscular dytrophy (DMD) do not involve gross rearrangements of the dystrophin gene...
  9. Oshima J, Magner D, Lee J, Breman A, Schmitt E, White L, et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009;126:411-23 pubmed publisher
    Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements...
  10. Prior T, Papp A, Snyder P, Burghes A, Bartolo C, Sedra M, et al. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet. 1993;4:357-60 pubmed
    ..We now describe what we believe to be the first dystrophin missense mutation in a DMD patient...
  11. Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, et al. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest. 1994;94:1037-42 pubmed
    The dystrophin gene, which is mutated in patients with Duchenne and Becker muscular dystrophies, is the largest known human gene. Five alternative promoters have been characterized until now...
  12. Adams M, Mueller H, Froehner S. In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4. J Cell Biol. 2001;155:113-22 pubmed
    ..The COOH-terminal half of alpha-syntrophin binds to dystrophin and related proteins, leaving the PSD-95, discs-large, ZO-1 (PDZ) domain free to recruit other proteins to the ..
  13. Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, et al. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J Biol Chem. 2000;275:15851-60 pubmed
    b>Dystrophin is the scaffold of a protein complex, disrupted in inherited muscular dystrophies. At the last 3' terminus of the gene, a protein domain is encoded, where syntrophins are tightly bound...
  14. Flanigan K, Dunn D, von Niederhausern A, Howard M, Mendell J, Connolly A, et al. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord. 2009;19:743-8 pubmed publisher
    ..The discovery of the first DMD founder mutation, associated with a mild Becker phenotype, suggests that the prevalence of hypomorphic dystrophin mutations should be re-examined with the use of improved genomic analysis.
  15. Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009;18:3779-94 pubmed publisher
    ..muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin products, including Dp71 or all dystrophin products, except Dp71...
  16. Lidov H, Selig S, Kunkel L. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995;4:329-35 pubmed
    We have identified a 7.5 kb transcript from the dystrophin locus which encodes a novel 140 kDa protein (Dp140)...
  17. Beroud C, Carrie A, Beldjord C, Deburgrave N, Llense S, Carelle N, et al. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord. 2004;14:10-8 pubmed
    In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-..
  18. Koenig M, Hoffman E, Bertelson C, Monaco A, Feener C, Kunkel L. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509-17 pubmed
    ..The majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. ..
  19. Kilimann M, Pizzuti A, Grompe M, Caskey C. Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet. 1992;89:253-8 pubmed
    About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification...
  20. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell. 1990;63:1239-48 pubmed
    Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced...
  21. Aartsma Rus A, Bremmer Bout M, Janson A, den Dunnen J, van Ommen G, van Deutekom J. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord. 2002;12 Suppl 1:S71-7 pubmed
    ..dystrophy is primarily caused by frame-disrupting mutations in the Duchenne muscular dystrophy gene which abort dystrophin synthesis...
  22. Wu Y, Yin G, Fu K, Wu D, Zhai Q, Du H, et al. Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them. J Clin Lab Anal. 2009;23:380-6 pubmed publisher
    ..DMD-1, DMD-2, DMD-4, DMD-8, and DMD-9) with DMD/BMD were found to have several hemizygous exon deletions in the dystrophin gene. The other patients and the fetus did not have any hemizygous deletion or duplication of any exons...
  23. Ginjaar I, Kneppers A, v d Meulen J, Anderson L, Bremmer Bout M, van Deutekom J, et al. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet. 2000;8:793-6 pubmed
    ..In the muscle biopsy specimen of patient2 one out of four antibodies (NCL-DYS1) showed absence of dystrophin. The protein truncation test detected a truncated dystrophin for both muscle tissue and lymphocytes of this ..
  24. Nawrotzki R, Loh N, Ruegg M, Davies K, Blake D. Characterisation of alpha-dystrobrevin in muscle. J Cell Sci. 1998;111 ( Pt 17):2595-605 pubmed
    b>Dystrophin-related and associated proteins are important for the formation and maintenance of the mammalian neuromuscular junction...
  25. Jung D, Yang B, Meyer J, Chamberlain J, Campbell K. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J Biol Chem. 1995;270:27305-10 pubmed
    b>Dystrophin, the product of the Duchenne muscular dystrophy gene, is tightly associated with the sarcolemmal membrane to a large glycoprotein complex...
  26. Eraslan S, Kayserili H, Apak M, Kirdar B. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet. 1999;7:765-70 pubmed
    ..The identification of point mutations in the dystrophin gene is considered to be very important, because it may provide new insights into the function of dystrophin and ..
  27. Nigro V, Nigro G, Esposito M, Comi L, Molinari A, Puca G, et al. Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet. 1994;3:1907-8 pubmed
  28. Laing N, Layton M, Johnsen R, Chandler D, Mears M, Goldblatt J, et al. Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?. Am J Med Genet. 1992;42:688-92 pubmed
    We report on a kindred segregating 2 distinct mutations of a dystrophin gene...
  29. D Souza V, Nguyen T, Morris G, Karges W, Pillers D, Ray P. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet. 1995;4:837-42 pubmed
    b>Dystrophin is present in the outer plexiform layer of the retina and is required for normal retinal function as measured by electroretinography...
  30. Singh S, Mallela K. The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin. Biophys J. 2012;103:1970-8 pubmed publisher
    Deficiency of the vital muscle protein dystrophin triggers Duchenne/Becker muscular dystrophy, but the structure-function relationship of dystrophin is poorly understood...
  31. Lai P, Takeshima Y, Adachi K, Van Tran K, Nguyen H, Low P, et al. Comparative study on deletions of the dystrophin gene in three Asian populations. J Hum Genet. 2002;47:552-5 pubmed
    ..of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam...
  32. Bulman D, Gangopadhyay S, Bebchuck K, Worton R, Ray P. Point mutation in the human dystrophin gene: identification through western blot analysis. Genomics. 1991;10:457-60 pubmed
    Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient...
  33. Pozzoli U, Sironi M, Cagliani R, Comi G, Bardoni A, Bresolin N. Comparative analysis of the human dystrophin and utrophin gene structures. Genetics. 2002;160:793-8 pubmed
    ..Out-of-frame rod-domain exons have stronger splice sites and are separated by significantly longer introns as compared to in-frame exons. These features are unique for the two homologs and not shared by other spectrin superfamily genes. ..
  34. Tadayoni R, Rendon A, Soria Jasso L, Cisneros B. Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol Neurobiol. 2012;45:43-60 pubmed publisher
    b>Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the main Duchenne muscular dystrophy (DMD) gene product in brain...
  35. Milasin J, Muntoni F, Severini G, Bartoloni L, Vatta M, Krajinovic M, et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 1996;5:73-9 pubmed
    ..This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been ..
  36. Roberts R, Gardner R, Bobrow M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat. 1994;4:1-11 pubmed
    The past few years have seen a rapid increase in our knowledge of naturally occurring mutations in the dystrophin gene...
  37. Austin R, Fox J, Werstuck G, Stafford A, Bulman D, Dally G, et al. Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion. J Biol Chem. 2002;277:47106-13 pubmed
    ..F., Zuerbig, S., and Fox, J. E. B. (1995) J. Biol. Chem. 270, 27259-27265). Although platelets do not contain dystrophin, the identification of smaller C-terminal isoforms of dystrophin, including Dp71, which are expressed in a wide ..
  38. Mukherjee M, Chaturvedi L, Srivastava S, Mittal R, Mittal B. De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases. Exp Mol Med. 2003;35:113-7 pubmed
    ..The loss of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped ..
  39. Muntoni F, Melis M, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1995;56:151-7 pubmed
    We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness...
  40. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6:29-35 pubmed
    ..and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene...
  41. Taylor P, Betts G, Maroulis S, Gilissen C, Pedersen R, Mowat D, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS ONE. 2010;5:e8803 pubmed publisher
    ..In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms.
  42. Hwa H, Chang Y, Huang C, Chen C, Kao Y, Jong Y, et al. Small mutations of the DMD gene in Taiwanese families. J Formos Med Assoc. 2008;107:463-9 pubmed publisher
    ..led to a predictable premature stop codon or resulted in splicing defects, which caused defective function of dystrophin. Our findings extend the mutation spectrum of the DMD gene...
  43. Ankala A, Kohn J, Hegde A, Meka A, Ephrem C, Askree S, et al. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res. 2012;22:25-34 pubmed publisher
    ....
  44. Gurvich O, Maiti B, Weiss R, Aggarwal G, Howard M, Flanigan K. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum Mutat. 2009;30:633-40 pubmed publisher
    ..within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein...
  45. Tran V, Ta V, Vu D, Nguyen S, Do H, Ta M, et al. Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. J Neurogenet. 2013;27:170-5 pubmed publisher
    ..Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD...
  46. Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, et al. Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat. 2009;30:E310-9 pubmed publisher
    DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally ..
  47. Ahn A, Kunkel L. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995;128:363-71 pubmed
    b>Dystrophin, the protein product of the Duchenne muscular dystrophy locus, is a protein of the membrane cytoskeleton that associates with a complex of integral and membrane-associated proteins...
  48. Hoogerwaard E, Ginjaar I, Bakker E, de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology. 2005;65:1984-6 pubmed
    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated...
  49. Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott S, Topham M, et al. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions. J Biol Chem. 2001;276:26526-33 pubmed
    Syntrophins are modular adapter proteins that link ion channels and signaling proteins to dystrophin and its homologues...
  50. Peters M, O Brien K, Sadoulet Puccio H, Kunkel L, Adams M, Froehner S. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 1997;272:31561-9 pubmed
    b>Dystrophin, the protein disrupted in Duchenne muscular dystrophy, is one of several related proteins that are key components of the submembrane cytoskeleton...
  51. Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest. 1997;100:2204-10 pubmed
    ..mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case...
  52. Chamberlain J, Gibbs R, Ranier J, Nguyen P, Caskey C. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988;16:11141-56 pubmed
    ..We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD. ..
  53. Byers T, Lidov H, Kunkel L. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993;4:77-81 pubmed
    Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5...
  54. Lidov H, Kunkel L. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997;45:132-9 pubmed
    Dp140, a protein composed of the distal rod domain and carboxy-terminal domain of dystrophin, is expressed only in brain and kidney; transcription is initiated at a unique first exon located in dystrophin intron 44...
  55. Soltanzadeh P, Friez M, Dunn D, von Niederhausern A, Gurvich O, Swoboda K, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010;20:499-504 pubmed publisher
    ..Our results demonstrate that improved molecular diagnostic methods facilitate the identification of DMD mutations in manifesting carriers, and confirm the heterogeneity of mutational mechanisms as well as the wide spectrum of phenotypes...
  56. Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379-88 pubmed publisher
    ..Remarkably, two retrotransposon insertion events were also identified. Dystrophin cDNA analysis successfully revealed novel transcripts with a pseudoexon created by a single-nucleotide change ..
  57. Norwood F, Sutherland Smith A, Keep N, Kendrick Jones J. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure. 2000;8:481-91 pubmed
    b>Dystrophin is an essential component of skeletal muscle cells. Its N-terminal domain binds to F-actin and its C terminus binds to the dystrophin-associated glycoprotein (DAG) complex in the membrane...
  58. Sadeghi A, Doyle A, Johnson B. Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin. Am J Physiol Cell Physiol. 2002;282:C1502-11 pubmed
    The actin-binding proteins dystrophin and alpha-actinin are members of a family of actin-binding proteins that may link the cytoskeleton to membrane proteins such as ion channels...
  59. El Harouni A, Amr K, Effat L, Eassawi M, Ismail S, Gad Y, et al. The milder phenotype of the dystrophin gene double deletions. Acta Neurol Scand. 2003;107:400-4 pubmed
    ..to neurological examination including functional disability grading scale (FDGS), molecular analysis of the dystrophin gene and immunohistochemical studies of some muscle biopsies...
  60. White S, Aartsma Rus A, Flanigan K, Weiss R, Kneppers A, Lalic T, et al. Duplications in the DMD gene. Hum Mutat. 2006;27:938-45 pubmed
    The detection of duplications in Duchenne (DMD)/Becker Muscular Dystrophy (BMD) has long been a neglected issue. However, recent technological advancements have significantly simplified screening for such rearrangements...
  61. Cerna J, Cerecedo D, Ortega A, Garcia Sierra F, Centeno F, Garrido E, et al. Dystrophin Dp71f associates with the beta1-integrin adhesion complex to modulate PC12 cell adhesion. J Mol Biol. 2006;362:954-65 pubmed
    b>Dystrophin Dp71 is the main product of the Duchenne muscular dystrophy gene in the brain; however, its function is unknown...
  62. Acsadi G, Moore S, Chéron A, Delalande O, Bennett L, Kupsky W, et al. Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. J Biol Chem. 2012;287:18153-62 pubmed publisher
    Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish...