A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. [electronic resource]
Producer: 20080403Description: 129-33 p. digitalISSN:- 1468-6244
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Cardiomyopathy, Hypertrophic -- enzymology
- Codon, Nonsense
- DNA Primers -- genetics
- Genes, Mitochondrial
- Humans
- Hybrid Cells
- Male
- Mitochondrial Diseases -- enzymology
- Mitochondrial Proton-Translocating ATPases -- chemistry
- Molecular Sequence Data
- Nervous System Diseases -- enzymology
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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