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Article

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.

Journal of the neurological sciences - 15 Apr 2008

Vilà Maya R, Villarroya Joan, García-Arumí Elena, Castellote Amparo, Meseguer Anna, Hirano Michio, Roig Manuel

Abstract excerpt

A 12-year-old patient with mitochondrial DNA (mtDNA) depletion syndrome due to TK2 gene mutations has been evaluated serially over the last 10 years. We observed progressive muscle atrophy with selective loss of type 2 muscle fibers and, despite severe depletion of mtDNA, normal activities of res...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Myopathies

Share to Muscle Fibers, Fast-Twitch

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Source

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Identifiers

PMID: 18021809
DOI: 10.1016/j.jns.2007.10.019
PMCID: PMC10071412

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18021809-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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