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Article

Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.

Journal of clinical neuromuscular disease - 1 Mar 2026

Hoang Daria, Pestronk Alan, Kafaie Jafar

Abstract excerpt

ABSTRACT: We report a pediatric case of severe isolated mitochondrial myopathy because of the rare m.3251A>G variant of the MT-TL1 gene. A 7-year-old boy presented to the hospital with acute-on-chronic weakness and respiratory insufficiency. Initial laboratory tests were notable for elevated lactate, aldolase, and lactate dehydrogenase. Despite a negative autoimmune panel, he was presumed to have myositis and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41766076
DOI: 10.1097/CND.0000000000000547

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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