Key result
Muscular AMP deaminase deficiency is linked to skeletal myopathy and dilated cardiomyopathy, suggesting autosomal dominant inheritance.
Why the study?
Familial muscular AMP deaminase deficiency associated with skeletal muscle type I atrophy and dilated cardiomyopathy was identified but not well characterized.
Reports a familial case of muscular AMP deaminase deficiency presenting with skeletal myopathy and fatal dilated cardiomyopathy, suggesting autosomal dominant inheritance.
Answers are grounded in this paper and cite their sources.
Alerts clinicians to possible cardiac involvement in AMPD deficiency; leaves open confirmation of autosomal dominant inheritance.
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.
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Scholte et al. (1981) studied this question. Muscular AMP deaminase deficiency was associated with skeletal myopathy, type I fiber atrophy, and dilated cardiomyopathy in two siblings, suggesting autosomal dominant inheritance.
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