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Article

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Neuromuscular disorders : NMD - 1 Mar 2005

Tsai Tzung-Chang, Horinouchi Hideo, Noguchi Satoru, Minami Narihiro, Murayama Kumiko, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

X-linked myotubular myopathy is a congenital muscle disorder due to MTM1 mutation, and is characterized clinically by generalized muscle weakness and hypotonia at birth usually resulting in early death. We newly identified 26 unrelated Japanese patients with MTM1 mutations by genomic DNA and transcript analysis, including 12 novel mutations. Among 31 patients, including our previously reported five patients, the...

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Share to Chromosomes, Human, X
Share to DNA, Recombinant

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

Share to Family Health

Share to Muscles

Share to Myopathies, Structural, Congenital

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Sex Chromosome Aberrations

Source

Identifiers

PMID: 15725586
DOI: 10.1016/j.nmd.2004.12.005

Genes

MTM1
MTMR1

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→

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Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.PMID 15725586Read ↗

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

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 ↗

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

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

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

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.Semantic proximity Read ↗

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

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.Semantic proximity Read ↗

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

Mutation studies in X-linked myotubular myopathy in three Indian families.Semantic proximity Read ↗

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