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Article

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Journal of the neurological sciences - 15 Mar 2014

Rubegni Anna, Cardaioli Elena, Chini Elena, Da Pozzo Paola, Battisti Carla, Malandrini Alessandro, Federico Antonio

Abstract excerpt

The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineural hearing loss. The percentage of mutation load in different tissues was similar in both...

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Identifiers

PMID: 24468540
DOI: 10.1016/j.jns.2014.01.010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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