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Article

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

European journal of medical genetics - 1 Nov 2020

Kraatari Minna, Tuominen Hannu, Tuupanen Sari, Haapaniemi Tarja, Moilanen Jukka, Rahikkala Elisa

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy caused by pathogenic variants in the myotubularin 1 (MTM1) gene. XLMTM leads to severe weakness in male infants and majority of them die in the early postnatal period due to respiratory failure. Disease manifestations in female carriers vary from asymptomatic to severe, generalized congenital weakness. The symptomatic female carriers typically...

Topics

Adult
Aged
Diagnosis, Differential
Female
Genetic Testing
Heterozygote
Humans
Mutation, Missense
Myopathies, Structural, Congenital
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases, Non-Receptor

Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 32805447
DOI: 10.1016/j.ejmg.2020.104040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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