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Article

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Neuromuscular disorders : NMD - 1 Nov 2002

Karadimas Charalampos L, Salviati Leonardo, Sacconi Sabrina, Chronopoulou Penelope, Shanske Sara, Bonilla Eduardo, De Vivo Darryl C, DiMauro Salvatore

Abstract excerpt

A 21-year-old woman described proximal muscle weakness since early childhood. At age 16, she developed bilateral ptosis, progressive external ophthalmoplegia, and exercise intolerance. She harbored a heteroplasmic G12315A mutation in the mitochondrial DNA tRNA(Leu(CUN)) gene, which disrupts a highly conserved G-C base pair in the TPsiC stem of the molecule. Mutant mitochondrial DNA was 62% of total in muscle and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12398839
DOI: 10.1016/s0960-8966(02)00072-x

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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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