Salia Bamba

Abstract Epigenetic modifications influence gene expression levels, impact organismal traits, and play a role in the development of diseases. Therefore, variants in genes involved in epigenetic processes are likely to be important in disease susceptibility, and the frequency of variants may vary between populations with African and European ancestries.

Abstract Hereditary neurological diseases (HNDs), referring to monogenic forms of neurological diseases, can cause substantial debilitation in affected individuals. They particularly impact developing nations, where the burden of disease is reflected in a high number of disability-adjusted life years lost. In African populations, despite rich genetic diversity, high fertility rates and prevalent consanguinity, genetic research remains under-explored.

BM Bethlem Myopathy CADD combined annotation dependent depletion CK creatine kinase CM congenital myopathies CMDs congenital muscular dystrophies EMG electromyography Fathmm functional analysis through hidden Markov models SS sanger sequencing UCMD Ullrich congenital muscular dystrophy WES whole exome sequencing.