Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy
Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy
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DOI：
10.1016/j.nmd.2008.03.011
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发表时间：
2008-07-01
影响因子：
2.8
通讯作者：
Campbell, Craig
中科院分区：
文献类型：
--
作者：
Korngut, Lawrence;Siu, Victoria M.;Campbell, Craig
该病例描述了一名年轻男孩，合并有遗传确认的Duchenne肌营养不良症和面肩肩关节肌营养不良症，并伴有Dstrophin基因第6外显子的新突变和31kb的D4Z4片段。这名儿童在两种疾病过程中都表现出比预期更严重的表型，并强调了彻底的诊断性调查在识别非典型临床表现中的作用。(C)2008年，爱思唯尔出版。
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.