Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

Introduction Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutati...

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Published in:	Journal of neurology Vol. 266; no. 9; pp. 2177 - 2185
Main Authors:	Polavarapu, Kiran, Preethish-Kumar, Veeramani, Sekar, Deepha, Vengalil, Seena, Nashi, Saraswati, Mahajan, Niranjan P., Thomas, Priya Treesa, Sadasivan, Arun, Warrier, Manjusha, Gupta, Anupam, Arunachal, Gautham, Debnath, Monojit, Keerthipriya, Muddasu Suhasini, Pradeep-Chandra-Reddy, Chevula, Puttegowda, Arpitha, John, Anu P., Tavvala, Ajitha, Gunasekaran, Swetha, Sathyaprabha, Talakad N., Chandra, Sadanandavalli Retnaswami, Kramer, Boris, Delhaas, Tammo, Nalini, Atchayaram
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01-09-2019 Springer Nature B.V
Subjects:	Alternative splicing Child Child, Preschool Children Cohort Studies Databases, Genetic - trends Duchenne's muscular dystrophy Dystrophin Genetic counseling Humans India - epidemiology Male Medicine Medicine & Public Health Muscular dystrophy Muscular Dystrophy, Duchenne - diagnosis Muscular Dystrophy, Duchenne - epidemiology Muscular Dystrophy, Duchenne - genetics Mutation Mutation - genetics Neurology Neuroradiology Neurosciences Next-generation sequencing Original Communication Retrospective Studies India Mutation Duchenne muscular dystrophy Familial India
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