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Article

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Neurology - 22 Apr 2003

Schara Ulrike, Kress Wolfram, Tücke Jens, Mortier Wilhelm

Abstract excerpt

X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.

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Source

Identifiers

PMID: 12707446
DOI: 10.1212/01.wnl.0000058763.90924.fa

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.PMID 12707446Read ↗

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Semantic proximity Read ↗

X-linked myotubular myopathy: report of a case with novel mutation.Semantic proximity Read ↗

X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.Semantic proximity Read ↗

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Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.Semantic proximity Read ↗

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