Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

ABSTRACT: Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later. She had a stroke with restricted diffusion change in the basal ganglia and internal capsule at age 44 years. Molecular genetic testing identified a previously-reported pathogenic, heteroplasmic mutation in the mitochondrial-encoded transfer

SUBMITTER: Ng YS 

PROVIDER: S-EPMC5066368 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature