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Article

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

Journal of child neurology - 1 Apr 2007

Hortobágyi Tibor, Szabó Hajnalka, Kovács Krisztián S, Bódi István, Bereg Edit, Katona Márta, Biancalana Valérie, Túri Sándor, Sztriha László

Abstract excerpt

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and...

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Share to DNA Mutational Analysis
Share to Genetic Diseases, X-Linked

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

Share to Infant, Newborn

Share to Microscopy, Electron, Transmission

Share to Muscle Fibers, Skeletal

Share to Myopathies, Structural, Congenital

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Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

PMID: 17621527
DOI: 10.1177/0883073807301930

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

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Research trail→

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X-linked myotubular myopathy: report of a case with novel mutation.PMID 17621527Read ↗

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Neonatal X-linked myotubular myopathy with a de novo mutation: A 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 ↗

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X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.Semantic proximity Read ↗

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