A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
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DOI: 10.1016/j.ejmg.2017.04.006
Abstract: We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in… read more here.
Keywords: isolated complex; atp6; complex deficiency; frameshift mutation ... See more keywords