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

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].

No to hattatsu = Brain and development - 1 Nov 1998

Watanabe T, Watanabe M, Saito T, Higashitani A, Tanaka S, Nishino I, Nonaka I

Abstract excerpt

We reported a male patient with X-linked myotubular myopathy in whom MTM 1 gene mutation was first identified in Japan. The patient had 9-nucleotide insertion between exons 11 and 12 due to aberrant splicing. The patient showed severe hypotonia and generalized muscle weakness at birth. Mechanical...

Topics

Child, Preschool
Genetic Linkage
Humans
Male
Muscular Diseases
Mutation
Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases, Non-Receptor
X Chromosome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9844418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9844418-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].PMID 9844418Read ↗

[X-linked myotubular myopathy].Semantic proximity Read ↗

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

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.Semantic proximity Read ↗

X-linked myotubular myopathy with probable germline mosaicism.Semantic proximity Read ↗

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

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

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

MTM1 gene mutations in Japanese patients with the severe infantile form of 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 ↗

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

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