Mutation studies in x-linked myotubular myopathy in three indian families.
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Date
2010-04
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Abstract
Congenital myopathies are a group of genetic disorders characterized by generalised muscle hypotonia and weakness of
varying severity. They are distinct entities and do not include muscular dystrophies, metabolic myopathies and mitochondrial
disorders. Myotubular myopathy is a rare sub type within this group of disorders. Clinical differentiation of the various types
is difficult and requires muscle biopsy with histopathological and immunohistochemical studies for specific diagnosis. Gene
studies are a prerequisite for genetic counseling adn prenatal diagnosis. Here presented three cases of X-linked myotubular
myopathy in three Indian families where the diagnosis was established by mutation analysis in the MTM1 gene in all, and
supported his histopathology in two. All three families had history of previous male neontal deaths with similar complaints.
Molecular analysis revealed hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X)
in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3. Genetic counseling was performed
regarding the X-linked inheritance, their 50% risk of recurrence in boys in subsequent pregnancies, and a feasibility of prenatal
diagnosis. This is the first report of cases of X-linked Myotubular myopathy from India.
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Keywords
X-linked myotubular myopathy, Mutation studies, MTM1, Indian
Citation
Bijarnia Sunita, Puri Ratna D, Jain Monika, Kler Neelam, Roy Subimal, Urtizberea J Andoni, Biancalana Valerie, Verma I C. Mutation studies in x-linked myotubular myopathy in three indian families. Indian Journal of Pediatrics. 2010 Apr; 77(4): 431-433.