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Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2835-8.

[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].

[Article in Chinese]

Author information

  • 1Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Abstract

OBJECTIVE:

To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation.

METHODS:

We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.

RESULTS:

Among them, 6 patients presented as juvenile-onset myoclonic epilepsy with ragged red fibers (MERRF) syndrome, 2 suffered infant-onset Leigh syndrome and the remaining 2 were diagnosed as limb-girdle mitochondrial myopathy. The mtDNA A8344G mutation load from muscle samples showed that patients with Leigh syndrome>MERRF syndrome>mitochondrial myopathy (87.2%, 88.4%>69.0%-86.8%>67.2%, 58.4%).

CONCLUSIONS:

Mitochondrial disease caused by A8344G point mutation shows a great heterogeneity. The mutation load of muscle mtDNA might be associated with the severity of clinical phenotype, the higher mutation load, the more severe clinical presentations.

PMID:
23290212
[PubMed - indexed for MEDLINE]
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