Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA.

doi:10.1212/wnl.45.6.1188

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Article

Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA.

Neurology - 1 Jun 1995

Rusanen H, Majamaa K, Tolonen U, Remes A M, Myllylä R, Hassinen I E

Abstract excerpt

A novel feature of demyelinating polyneuropathy was observed in a patient with the tRNA(Leu(UUR)) mutation at base pair 3243 of the mitochondrial DNA. Based on electrodiagnostic examination, the polyneuropathy was defined as being of the demyelinating, mixed (motor more than sensory) type. In a 1...

Topics

Adult
Aged
DNA, Mitochondrial
Demyelinating Diseases
Female
Humans
MELAS Syndrome
Male
Middle Aged
Mutation
Pedigree
RNA, Transfer, Amino Acyl

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