A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere, A I
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. [electronic resource] - Journal of medical genetics Mar 2008 - 129-33 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2007.052084 doi
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
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. [electronic resource] - Journal of medical genetics Mar 2008 - 129-33 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2007.052084 doi
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