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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 ventilation and tube feeding were necessary because of poor spontaneous respiration and sucking. On muscle biopsy,...

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PMID: 9844418

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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.

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

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