ArticleMolecular genetics & genomic medicine2019
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- X-linked myotubular myopathy in a neonate: a case report and literature review.Frontiers in pediatrics · 2026Article
- Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome.Reproductive biology and endocrinology : RB&E · 2022Article
- Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.BMC pediatrics · 2021Review
- Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundX-linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1).
methodsEvaluation of clinical history and examination of muscle pathology of three patients and comprehensive genome analysis on our original targeted gene panel system for muscular diseases.
resultsWe report three patients, each of whom presents distinct muscle pathological features. The three patients have novel hemizygous MTM1 variants, including c.527A>G (p.Gln176Arg), c.595C>G (p.Pro199Ala), or c.688T>C (p.Trp230Arg).
conclusionsAll variants were assessed as "Class 4 (likely pathogenic)" on the basis of the guideline of American College of Medical Genetics and Genomics. These distinct pathological features among the patients with variants in the second cluster of PTP domain in MTM1 provides an insight into microheterogeneities in disease phenotypes in XLMTM.
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