Article
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Neurogenetics - 1 Oct 2024
Chawla Tanushree, Nashi Saraswati, Baskar Dipti, Polavarapu Kiran, Vengalil Seena, Bardhan Mainak, Preethish-Kumar Veeramani, Sukrutha Ramya, Unnikrishnan Gopikrishnan, Huddar Akshata, Padmanabha Hansashree, Anjanappa Ram Murthy, Bevinahalli Nandeesh, Nittur Vidya, Rajanna Manoj, Arunachal Udupi Gautham, Nalini Atchayaram
Abstract excerpt
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectrum of genetically confirmed cases of CMD. This was retrospective & descriptive study done at a quaternary care referral centre in south India. Genetically confirmed cases of...
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