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

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

European journal of human genetics : EJHG - 1 May 2013

Oliveira Jorge, Oliveira Márcia E, Kress Wolfram, Taipa Ricardo, Pires Manuel Melo, Hilbert Pascale, Baxter Peter, Santos Manuela, Buermans Henk, den Dunnen Johan T, Santos Rosário

Abstract excerpt

Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle traffic...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Fatal Outcome

Share to High-Throughput Nucleotide Sequencing

Share to Histological Techniques

Share to Myopathies, Structural, Congenital

Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Open in PubMed Open full text

Identifiers

PMID: 22968136
DOI: 10.1038/ejhg.2012.201
PMCID: PMC3641378

Genes

MTM1
MAMLD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22968136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.PMID 22968136Read ↗

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.Semantic proximity Read ↗

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

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

Structural rationale to understand the effect of disease-associated mutations on MyotubularinSemantic proximity Read ↗

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

From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.Semantic proximity Read ↗

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.Semantic proximity Read ↗

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

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.Semantic proximity Read ↗

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.Semantic proximity Read ↗

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