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Article

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

Neuromuscular disorders : NMD - 1 Jun 2002

Yamasoba Tatsuya, Goto Yu ichi, Oka Yoshitomo, Nishino Ichizo, Tsukuda Katsunori, Nonaka Ikuya

Abstract excerpt

We investigated three families with maternally inherited deafness associated with a 1555 A-to-G substitution in the 12S ribosomal RNA gene. Probands in these families developed deafness following streptomycin treatment, whereas several family members who did not receive aminoglycoside showed onset of deafness in middle age. One proband had a non-synonymous A14062G mutation in the ND5 gene and the other had a...

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PMID: 12031626
DOI: 10.1016/s0960-8966(01)00329-7

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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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Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.PMID 12031626Read ↗

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