Isabella A Motta, Maria L A Gouveia, Ana P M Braga, Rafael S Andrade, Mayra F F Montenegro, Sandra N Gurgel, Keila M F Albuquerque, Priscilla A N G Souto, Flávia P B F Cardoso, Joseane S Araujo, Mirella C L Pinheiro, Carlos E P da Silva, Pamella A S Gurgel, David Feder, Matheus M Perez, Glaucia L da Veiga, Beatriz C A Alves, Fernando L A Fonseca, Alzira A S Carvalho
BACKGROUND: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). OBJECTIVE: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy. METHODS: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF...
December 20, 2023: Current Genomics