Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

doi:10.1016/s0022-3476(94)70073-7

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Article

Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

The Journal of pediatrics - 1 Nov 1994

Dougherty F E, Ernst S G, Aprille J R

Abstract excerpt

We report a clinically heterogeneous, multigenerational pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with a mutation at nucleotide 3243 in the mitochondrial DNA tRNA(Leu)(UUR) gene. Our findings suggest that the mutati...

Topics

Adolescent
DNA, Mitochondrial
Deoxyribonucleases, Type II Site-Specific
Humans
MELAS Syndrome
Male
Mutation
Pedigree
Polymerase Chain Reaction
RNA, Transfer, Leu
Recurrence

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