Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect. [electronic resource]
Producer: 19970424Description: 20-7 p. digitalISSN:- 0022-510X
- Adult
- Biopsy
- Cardiomyopathy, Dilated -- complications
- DNA, Mitochondrial -- analysis
- Electron Transport -- physiology
- Genes, Dominant
- Genes, Recessive
- Humans
- Magnetic Resonance Spectroscopy
- Male
- Middle Aged
- Mitochondrial Myopathies -- complications
- Muscle Fibers, Skeletal -- pathology
- Muscle, Skeletal -- pathology
- Muscular Dystrophies -- complications
- Myocardium -- pathology
- Pedigree
- Phosphocreatine -- metabolism
- Phosphorus Isotopes
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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