Key result
Mitochondrial ATP8 nonsense mutation linked to improper assembly and reduced complex V activity.
Why the study?
The biochemical and molecular genetic defect causing apical hypertrophic cardiomyopathy and neuropathy suspected to be mitochondrial in origin was unknown.
Population
1 patient aged 16 years with apical hypertrophic cardiomyopathy and neuropathy
Design
Case report with biochemical, genetic, and cybrid analyses
Authors
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May warrant ATP8 testing in apical HCM with neuropathy; extends mitochondrial cardiomyopathy genetics but remains hypothesis-generating.
Case Report (n=1)
This study describes the first pathogenic mutation in the mitochondrial ATP8 gene associated with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere et al. (2007) conducted a case report in Apical hypertrophic cardiomyopathy and neuropathy (n=1). m.8529G-->A (p.Trp55X) mutation in the mitochondrial ATP8 gene was evaluated on Biochemical and molecular genetic defect. A homoplasmic nonsense mutation m.8529G-->A (p.Trp55X) in the mitochondrial ATP8 gene was identified in a 16-year-old patient, resulting in improper assembly and reduced activity of complex V.
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