Follow-up and novel gene identification of the X-linked myotubular myopathy in Indian family

Abstract

Myotubular myopathy (MTM) is one of the rare types of the congenital myopathy. There are three types of inheritance documented, namely, X-linked recessive, autosomal recessive, and autosomal dominant. X-linked myotubular myopathy (XLMTM) is most common and severe in the spectrum. Usually, it is characterized by severe hypotonia and difficulty in establishing spontaneous respiration at birth in affected males. The incidence of XLMTM is estimated at 2/100,000 male neonates. The disease affects only male neonates and is linked to mutation in MTM1 gene, located on Xq28 and coding of myotubularin. Identification of the MTM1 gene mutations is of great importance as it allows confirmation of diagnosis and determination of carrier status, which is necessary for the genetic counseling. We report one case of MTM confirmed by the MTM1 gene mutation in Indian family with a history of neonatal death.