Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome
Mainak Bardhan, Kiran Polavarapu, Nandeesh Bevinahalli, Veeramani Preethish‐Kumar, Ram Murthy Anjanappa, Gautham Arunachal, Leena Shingavi, Seena Vengalil, Saraswati Nashi, Tanushree Chawla, Divya Nagabushana, Dhaarini Mohan, Rita Horváth, Ichizo Nishino, Atchayaram Nalini
Topics & Concepts
Missense mutationRett syndromeCongenital muscular dystrophyPathologyHypotoniaCongenital myasthenic syndromeMuscle biopsyMedicineMuscular dystrophyGeneticsBiologyPhenotypeMutationBiopsyGeneMuscle Physiology and DisordersGenetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases