Article
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
Neuromuscular disorders : NMD - 1 Jul 1995
Tsujino S, Shanske S, Carroll J E, Sabina R L, DiMauro S
Abstract excerpt
A 2-yr-old boy had congenital hypotonia, limb weakness, exercise intolerance and one episode of myoglobinuria. Histochemical and biochemical analysis of muscle showed a combined defect of phosphorylase and AMP deaminase. DNA analysis showed that the child was homozygous for the mutations commonly found in both McArdle's disease and AMP deaminase deficiency. The father was heterozygous for both mutations. The...
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