A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

作者：Neri M^*; Selvatici R; Scotton C; Trabanelli C; Armaroli A; De Grandis D; Levy N; Gualandi F; Ferlini A

来源：Neuromuscular Disorders, 2013, 23(6): 478-482.

DOI：10.1016/j.nmd.2013.02.003

• Limb girdle muscular dystrophy
• Array CGH
• TRIM32

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.

• 出版日期2013-6