A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.
Jonckheere AI, et al. Among authors: diepstra jh.
J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22.
J Med Genet. 2008.
PMID: 17954552