PMID: 8580729Nov 1, 1995Paper

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

Neuromuscular Disorders : NMD
A ToscanoA Fiumara

Abstract

We report here three related patients with a duplication of exons 19-41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- 20-fold increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The clinical and laboratory findings were consistent with a diagnosis of Becker muscular dystrophy with early onset. Their 14-year-old cousin had only mild hyperCKemia. His muscle biopsy was normal with only mild reduction of dystrophin immunostaining. At follow-up, he is still without symptoms and signs at age 19. All three patients had the same gene duplication and an increased dystrophin size of 507 kDa. Expression of the dystrophin-associated glycoproteins adhalin, alpha-dystroglycan, and beta-dystroglycan were normal in the three patients. An intrafamilial variability in patients carrying a partial duplication of the dystrophin gene may be related to a quantitative difference in mRNA.

References

Nov 1, 1977·Annals of Neurology·T Furukawa, J B Peter
May 1, 1990·Neurology·C AngeliniL M Kunkel
Jan 1, 1990·Human Genetics·M NordenskjöldL Stolpe
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Citations

Aug 22, 2015·Pediatric Neurology·Reid C ChamberlainMichael J Campbell
Jun 1, 1996·Seminars in Pediatric Neurology·B Reitter, H H Goebel
Jul 9, 1998·Muscle & Nerve·S J SchatzbergN J Sharp

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