Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

• 影响指数: 0.522
• 发表时间: Jul 2011
• 来源期刊: Hippokratia
• PMID: 22435031
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Fidani L,Karagianni P,Tsakalidis C,Mitsiako G,Hatziioannidis I,Biancalana V,Nikolaidis N

关键词: Greek; MTM1 gene; X-linked myotubular myopathy; mutation

Abstract

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated with severe phenotype. The mutation was also identified in the patient\'s mother, providing an opportunity for sound genetic counseling.