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Article

Genotype-phenotype correlations in X-linked myotubular myopathy.

Neuromuscular disorders : NMD - 1 Dec 2002

McEntagart Meriel, Parsons Gretchen, Buj-Bello Anna, Biancalana Valérie, Fenton Iain, Little Mark, Krawczak Michael, Thomas Nick, Herman Gail, Clarke Angus, Wallgren-Pettersson Carina

Abstract excerpt

X-linked myotubular myopathy is a severe congenital myopathy that presents in the neonatal period with profound hypotonia and an inability to establish spontaneous respiration. Usually death occurs in infancy from respiratory failure. However, there is phenotypic variability; a number of affected boys have achieved respiratory independence and become ambulatory. Disease-causing mutations have been identified...

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Share to Chromosomes, Human, X
Share to Dosage Compensation, Genetic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Myopathies, Structural, Congenital

Share to Outcome Assessment, Health Care

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Statistics as Topic

Source

Identifiers

PMID: 12467749
DOI: 10.1016/s0960-8966(02)00153-0

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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Genotype-phenotype correlations in X-linked myotubular myopathy.PMID 12467749Read ↗

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