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Article

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

Neuromuscular disorders : NMD - 1 Nov 2006

Hoffjan Sabine, Thiels Charlotte, Vorgerd Matthias, Neuen-Jacob Eva, Epplen Jörg T, Kress Wolfram

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder caused by mutations in the MTM1 gene. Affected males usually present at birth with severe hypotonia and respiratory insufficiency, and most of them die within the first few years of life. We report here on a 68-year-old patient with a very mild form of the disease who was diagnosed after his grandson showed muscular weakness and respiratory...

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Source

Identifiers

PMID: 17005396
DOI: 10.1016/j.nmd.2006.07.020

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.

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Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.PMID 17005396Read ↗

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