Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041659 | Neuromuscular Disorders | 2013 | 5 Pages |
Abstract
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.
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Authors
M. Neri, R. Selvatici, C. Scotton, C. Trabanelli, A. Armaroli, D. De Grandis, N. Levy, F. Gualandi, A. Ferlini,