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Article

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

Archives of neurology - 1 Dec 2006

Jeppesen Tina D, Schwartz Marianne, Frederiksen Anja L, Wibrand Flemming, Olsen David B, Vissing John

Abstract excerpt

BACKGROUND: Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling. OBJECTIVE: To investigate the relationship between the muscle and blood mitochondrial DNA mutation load and phenotype. DESIGN: Survey. SETTING: The Neuromuscular Research Unit, Rigshospitalet, Copenhagen, Denmark. PARTICIPANTS:...

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Identifiers

PMID: 17172609
DOI: 10.1001/archneur.63.12.1701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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