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Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy
Author(s) -
Scholte H. R.,
Busch H. F. M.,
LuytHouwen I. E. M.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263644
Subject(s) - amp deaminase , cardiomyopathy , myopathy , skeletal muscle , atrophy , endocrinology , medicine , autosomal recessive inheritance , biology , genetics , heart failure , adenosine deaminase , gene , adenosine
Muscular AMP deaminase deficiency was found in two sibs suffering from a skeletal myopathy, characterized by type I fibre atrophy and a dilated cardiomyopathy. The family history suggests an autosomal dominant inheritance of this disorder.