Article
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
Journal of neuromuscular diseases - 1 Jan 2024
Harikrishna Ganaraja Valakunja, Padmanabha Hansashree, Polavarapu Kiran, Anjanappa Ram Murthy, Preethish-Kumar Veeramani, Nandeesh Bevinahalli Nanjegowda, Vengalil Seena, Nashi Saraswati, Baskar Dipti, Thomas Aneesha, Bardhan Mainak, Arunachal Gautham, Menon Deepak, Sanka Sai Bhargava, Manjunath Nisha, Nalini Atchayaram
Abstract excerpt
Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking. Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and...
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