Journal article
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults
Abstract
Two patients with exercise-induced myalgias and rhabdomyolysis with myoglobinuria were evaluated with muscle biopsy and comprehensive myopathy next generation sequencing (NGS) gene panels. Genetic analysis revealed homozygosity for two known pathogenic SGCA mutations (R284C in Patient 1 and V247M in Patient 2). Muscle biopsy showed minimal changes with normal immunohistochemistry for α-sarcoglycan. Western blotting showed 27% and 35% of normal …
Authors
Tarnopolsky M; Hoffman E; Giri M; Shoffner J; Brady L
Journal
Neuromuscular Disorders, Vol. 25, No. 12, pp. 952–954
Publisher
Elsevier
Publication Date
December 2015
DOI
10.1016/j.nmd.2015.09.010
ISSN
0960-8966