Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

被引：12

作者：

Korngut, Lawrence ^{[1
]}

Siu, Victoria M. ^{[2
]}

Venance, Shannon L. ^{[3
]}

Levin, Simon ^{[2
]}

Ray, Peter ^{[4
]}

Lemmers, Richard J. L. F. ^{[5
]}

Keith, Julia ^{[6
]}

Campbell, Craig ^{[2
]}

机构：

[1] Foothills Med Ctr, Dept Clin Neurosci, Calgary, AB T2N 4N1, Canada

[2] Childrens Hosp Western Ontario, Div Pediat Neurol, London, ON, Canada

[3] Univ Western Ontario Hosp, Dept Clin Neurol Sci, London, ON N6A 5A5, Canada

[4] Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[5] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands

[6] Univ Western Ontario Hosp, Dept Pathol, London, ON N6A 5A5, Canada

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 07期

关键词：

Duchenne muscular dystrophy; facioscapulohumeral muscular dystrophy; severe phenotype;

D O I：

10.1016/j.nmd.2008.03.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease process and underscores the role for thorough diagnostic investigation in identifying atypical clinical presentations. (c) 2008 Published by Elsevier B.V.

引用

页码：579 / 582

页数：4

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