Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.

Muntoni, F

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. [electronic resource] - Neuromuscular disorders : NMD May 1994 - 233-41 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/0960-8966(94)90024-8 doi


Adult
Cardiomyopathies--genetics
DNA--analysis
Death, Sudden--etiology
Desmin--immunology
Electrocardiography
Female
Humans
Immunohistochemistry
Intellectual Disability--genetics
Male
Microscopy, Electron
Muscle, Skeletal--metabolism
Muscular Diseases--genetics
Myocardium--metabolism
Pedigree
Phenotype