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 diseas...
Topics
- Adult
- Cardiomyopathies
- DNA
- Death, Sudden
- Desmin
- Electrocardiography
- Female
- Humans
- Immunohistochemistry
- Intellectual Disability
- Male
- Microscopy, Electron
- Muscle, Skeletal
- Muscular Diseases
- Myocardium
- Pedigree
- Phenotype