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Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

✍ Scribed by Anna Buj-Bello; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis Mandel

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
203 KB
Volume
14
Category
Article
ISSN
1059-7794

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✦ Synopsis

X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is highly conserved throughout evolution. To date, 139 MTM1 mutations in independent patients have been reported, corresponding to 93 different mutations. In this report we describe the identification of 21 mutations (14 novel) in XLMTM patients. Seventeen mutations are associated with a severe phenotype in males, with death occurring mainly before the first year of life. However, four mutationsthree missense (R241C, I225T, and novel mutation P179S) and one single-amino acid deletion (G294del)were found in patients with a much milder phenotype. These patients, while having a severe hypotonia at birth, are still alive at the age of 4, 7, 13, and 15 years, respectively, and display mild to moderate muscle weakness. Hum Mutat 14:320-325, 1999.

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