Article
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
European journal of neurology - 1 Mar 2021
Sanga Shamita, Ghosh Arnab, Kumar Krishna, Polavarapu Kiran, Preethish-Kumar Veeramani, Vengalil Seena, Nashi Saraswati, Bardhan Mainak, Arunachal Gautham, Raju Sanita, Gayathri Narayanappa, Biswas Nidhan K, Chakrabarti Saikat, Nalini Atchayaram, Roy Sudipto, Acharya Moulinath
Abstract excerpt
BACKGROUND AND PURPOSE: Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are a group of genetically and clinically heterogeneous degenerative primary muscle disorders with onset at birth or during infancy. Due to vast heterogeneity, clinical examination and protein-based analyses often fail to identify the genetic causes of these diseases. The aim of this study was to genetically diagnose a...
Topics
- Exome
- Humans
- Infant, Newborn
- Muscular Diseases
- Muscular Dystrophies
- Mutation
- Exome Sequencing