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High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil

Motta, IA; Gouveia, MLA; Braga, APM; Andrade, RS; Montenegro, MFF; Gurgel, SN; Albuquerque, KMF; Souto, PANG; Cardoso, FPBF; Araujo, JS; Pinheiro, MCL; da Silva, CEP; Gurgel, PAS; Feder, D; Perez, MM; da Veiga, GL; Alves, BCA; Fonseca, FLA; Carvalho, AAS

Carvalho, AAS (通讯作者),Ctr Univ FMABC, Dept Neurosci Neuromuscular Serv, Santo Andre, SP, Brazil.

CURRENT GENOMICS, 2023; 24 (5):

Abstract

Background Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting......

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