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Article

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Human genetics - 1 Feb 2003

Biancalana Valérie, Caron Olivier, Gallati Sabina, Baas Frank, Kress Wolfram, Novelli Giuseppe, D'Apice Maria Rosaria, Lagier-Tourenne Clotilde, Buj-Bello Anna, Romero Norma B, Mandel Jean-Louis

Abstract excerpt

X-linked myotubular myopathy is characterised by neonatal hypotonia, muscle weakness and respiratory distress in affected males, leading often to early death, although prolonged survival is observed in milder forms, or as a result of prolongation of ventilation support. It is caused by mutations in the MTM1 gene, which encodes a phosphatase called myotubularin, which has been highly conserved during evolution,...

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Share to Chromosomes, Human, X
Share to Infant, Newborn

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

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Sequence Deletion

Source

Identifiers

PMID: 12522554
DOI: 10.1007/s00439-002-0869-1

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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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.PMID 12522554Read ↗

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

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

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

MTM1 mutations in X-linked myotubular myopathy.Semantic proximity Read ↗

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.Semantic proximity Read ↗

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.Semantic proximity Read ↗

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 with a novel MTM1 mutation in a Taiwanese child.Semantic proximity Read ↗

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review.Semantic proximity Read ↗

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.Semantic proximity Read ↗

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.Semantic proximity Read ↗

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.Semantic proximity Read ↗

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