Mutation studies in x-linked myotubular myopathy in three indian families.

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dc.contributor.authorBijarnia, Sunita
dc.contributor.authorPuri, Ratna D
dc.contributor.authorJain, Monika
dc.contributor.authorKler, Neelam
dc.contributor.authorRoy, Subimal
dc.contributor.authorUrtizberea, J Andoni
dc.contributor.authorBiancalana, Valerie
dc.contributor.authorVerma, I C
dc.date.accessioned2012-10-29T06:20:21Z
dc.date.available2012-10-29T06:20:21Z
dc.date.issued2010-04
dc.description.abstractCongenital 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.en_US
dc.identifier.citationBijarnia 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142553
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/icb/t10/i4/icbt10i4p431.pdfen_US
dc.subjectX-linked myotubular myopathyen_US
dc.subjectMutation studiesen_US
dc.subjectMTM1en_US
dc.subjectIndianen_US
dc.subject.meshGenetic Diseases, X-Linked --genetics
dc.subject.meshHumans
dc.subject.meshInfant, Newborn
dc.subject.meshMale
dc.subject.meshMuscle, Skeletal --pathology
dc.subject.meshMutation
dc.subject.meshMyopathies, Structural, Congenital --diagnosis
dc.subject.meshMyopathies, Structural, Congenital --genetics
dc.subject.meshMyopathies, Structural, Congenital --pathology
dc.subject.meshProtein Tyrosine Phosphatases, Non-Receptor --genetics
dc.titleMutation studies in x-linked myotubular myopathy in three indian families.en_US
dc.typeArticleen_US
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