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Article

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Mar 2014

Prasad M, Narayan B, Prasad A N, Rupar C A, Levin S, Kronick J, Ramsay D, Tay K Y, Prasad C

Abstract excerpt

BACKGROUND: the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS: retrospective and ongoing study of an extended family carrying...

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PMID: 24534033
DOI: 10.1017/s0317167100016607

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