Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human mutation - 1 Jan 1999

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel J L

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is highly conserved throughout evolution. To date, 139 MTM1 mutations in independent patients have been reported,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Frameshift Mutation
Share to Genomic Imprinting
Share to Muscle, Skeletal

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

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 X Chromosome

Source

Identifiers

PMID: 10502779
DOI: 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.PMID 10502779Read ↗

MTM1 mutations in 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 ↗

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

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

X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.Semantic proximity Read ↗

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.Semantic proximity Read ↗

Genotype-phenotype correlations in X-linked myotubular myopathy.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 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.Semantic proximity Read ↗

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

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

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

⌁Select a neighboring publication to make it the new centre.