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Article

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscular disorders : NMD - 1 Jan 2000

Savarese Marco, Musumeci Olimpia, Giugliano Teresa, Rubegni Anna, Fiorillo Chiara, Fattori Fabiana, Torella Annalaura, Battini Roberta, Rodolico Carmelo, Pugliese Aniello, Piluso Giulio, Maggi Lorenzo, D'Amico Adele, Bruno Claudio, Bertini Enrico, Santorelli Filippo Maria, Mora Marina, Toscano Antonio, Minetti Carlo, Nigro Vincenzo

Abstract excerpt

Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males. Female carriers are usually asymptomatic but they may present with muscular weakness because of a hypothesized skewed pattern of X-chromosome inactivation. By combining next generation sequencing (NGS) and CGH array...

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Source

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Identifiers

PMID: 27017278
DOI: 10.1016/j.nmd.2016.02.004
PMCID: PMC4862961

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→

Click a neighbor to travelStep 1 · 12 closest

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.PMID 27017278Read ↗

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 mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.Semantic proximity Read ↗

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

Identification of novel mutations in the MTM1 gene causing severe and mild forms of 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 ↗

Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.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 ↗

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

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.Semantic proximity Read ↗

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

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

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

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