Article
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy.
Muscle & nerve - 1 May 2006
Stewart H G, Mackenzie I R, Eisen A, Brännström T, Marklund S L, Andersen P M
Abstract excerpt
A 71-year-old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became...
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