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Article

A Novel Variant in the TAMM41-Associated Mitochondrial Myopathy.

American journal of medical genetics. Part A - 1 May 2026

Moreno Cristiane Araujo Martins, Gontijo Clara Camelo, Fonseca Alulin Tacio Quadros Santos Monteiro, Horvath Rita, Schlesinger David, Zanoteli Edmar

Abstract excerpt

Pathogenic variants in TAMM41 were recently linked to mitochondrial myopathy, presenting with neonatal hypotonia, generalized weakness, developmental delay, ptosis, and ophthalmoparesis. Here, we present a long-term follow-up of an additional case, a Brazilian patient harboring a novel TAMM41 variant in compound heterozygosity with a previously described pathogenic variant. Patient exhibited mild developmental...

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Source

Identifiers

PMID: 41436359
DOI: 10.1002/ajmga.70034

Genes

TAMM41

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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