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Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Neuromuscular disorders : NMD - 1 Feb 2018

Scarpelli Mauro, Carreño-Gago Lidia, Russignan Anna, de Luna Noemi, Carnicer-Cáceres Clara, Ariatti Alessandra, Verriello Lorenzo, Devigili Grazia, Tonin Paola, Garcia-Arumi Elena, Pinós Tomàs

Abstract excerpt

We report on two novel mtDNA mutations in patients affected with mitochondrial myopathy. The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. Muscle biopsies in both patients showed ragged red fibers and numerous COX-negative fibers as well as a...

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Share to DNA, Mitochondrial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29174468
DOI: 10.1016/j.nmd.2017.10.006

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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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