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Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy

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Journal of Inherited Metabolic Disease

Abstract

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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Authors and Affiliations

  1. Department of Biochemistry I, Neurology and Pathology, Medical Faculty, Erasmus University, Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands

    H. R. Scholte, H. F. M. Busch & I. E. M. Luyt-Houwen

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  1. H. R. Scholte
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  2. H. F. M. Busch
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  3. I. E. M. Luyt-Houwen
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Scholte, H.R., Busch, H.F.M. & Luyt-Houwen, I.E.M. Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy. J Inherit Metab Dis 4, 169–170 (1981). https://doi.org/10.1007/BF02263644

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