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Article

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.

Neurology - 11 Sept 2001

Sutton I J, Winer J B, Norman A N, Liechti-Gallati S, MacDonald F

Abstract excerpt

Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness. It is proposed that manifesting heterozygote females with XLMTM have a skewed pattern of X-chromosome inactivation. However, skewed X-chromosome inactivation was not detected in either the lymphocyte or muscle DNA of a woman who presented with limb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

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Share to Myopathies, Structural, Congenital

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Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

PMID: 11552027
DOI: 10.1212/wnl.57.5.900

Genes

MTM1

Provenance

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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