期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 6, 页码 478-482出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2013.02.003
关键词
Limb girdle muscular dystrophy; Array CGH; TRIM32
资金
- NMD-Chip project (Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders), FP7 [HEALTH-F5-2008-223026]
Limb girdle muscular dystrophy 2H is a rare autosomal recessive muscular dystrophy, clinically highly variable, caused by mutations in the TRIM32 gene. Here we describe a 35-years-old who experienced progressive muscle weakness. The muscle biopsy revealed an unspecific pattern of atrophic and hypertrophic fibers; the immunohistochemistry for several proteins was normal. Comparative genomic hybridization (CGH) analysis showed a heterozygous deletion of the entire TRIM32 gene. On the other allele we identified the R316X nonsense mutation. The genetic diagnosis of LGMD2H in this case was reached by using a novel high throughput diagnostic tool. (C) 2013 Elsevier B.V. All rights reserved.
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