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Article

Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.

Journal of child neurology - 1 Jul 2002

Nevo Yoram, Soffer Dov, Kutai Miriam, Zelnik Nathanel, Saada Anne, Jossiphov Joseph, Messer Glenda, Shaag Avraham, Shahar Eli, Harel Shaul, Elpeleg Orly

Abstract excerpt

Four nonrelated children with myopathic mitochondrial DNA depletion are described. Two of them initially had normal motor development and two had mild motor delay. Motor arrest and regression started at age 6 to 21 months. All four had mitochondrial DNA:nuclear DNA ratios reduced to 16 to 22% of the control mean and mutations in their mitochondrial thymidine kinase 2. Muscle pathology was genotype related:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12269728
DOI: 10.1177/088307380201700705

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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