Article
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.
Neuromuscular disorders : NMD - 1 May 1994
Muntoni F, Catani G, Mateddu A, Rimoldi M, Congiu T, Faa G, Marrosu M G, Cianchetti C, Porcu M
Abstract excerpt
The clinical and morphological findings of a familial case affected by mental retardation, severe biventricular hypertrophic cardiomyopathy and vacuolar myopathy are reported. The phenotype of this patient is similar to that described by other authors, in which a lysosomal glycogen storage disease with normal acid maltase levels was suspected. However, in our case the vacuoles were stained by several antibodies...
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