Article
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
Indian journal of pediatrics - 1 Jul 2020
Kohli Sudha, Saxena Renu, Thomas Elizabeth, Singh Kuldeep, Bijarnia Mahay Sunita, Puri Ratna Dua, Verma Ishwar Chander
Abstract excerpt
BACKGROUND: Dystrophinopathies are common X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD). Analysis of the mutational spectrum in the Indian patients would be useful for confirming the diagnosis, provide genetic counseling, offer reproductive options, and importantly to determine the eligibility for the mutation-specific therapies currently approved/or...
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