Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

doi:10.1007/s00415-003-0246-6

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Article

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

Journal of neurology - 1 Dec 2003

Sciacco Monica, Prelle Alessandro, D'Adda Elisabetta, Lamperti Costanza, Bordoni Andreina, Rango Mario, Crimi Marco, Comi Giacomo P, Bresolin Nereo, Moggio Maurizio

Abstract excerpt

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Topics

Adult
Apoptosis
Ataxia
Blotting, Southern
Brain
DNA Mutational Analysis
DNA, Mitochondrial
Female
Humans
In Situ Nick-End Labeling
Leigh Disease
Magnetic Resonance Spectroscopy
Microscopy, Electron
Mitochondrial Diseases
Muscle Weakness
Muscle, Skeletal
Pedigree
Phenotype

Source

Open in PubMed

Identifiers

PMID: 14673588
DOI: 10.1007/s00415-003-0246-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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