Article
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Clinical genetics - 1 Nov 2024
Gaviraghi Tobias, Cavalcanti Eduardo B U, Lorenzoni Paulo José, Cotta Ana, de Souza Paulo V S, de Oliveira André D, de Moraes Maria T, Marques Marcos V O, Donis Karina C, Winckler Pablo B, Costa E Silva Cynthia, Pinto Wladimir B V R, Kay Cláudia S K, Ducci Renata D, Rodrigues Paula R V P, Fustes Otto J H, da Silva André M S, Zanoteli Edmar, França Marcondes C, Sobreira Cláudia F R, Oliveira Acary S B, Carvalho Elmano H T, Scola Rosana H, Carvalho Alzira A S, Saute Jonas Alex Morales
Abstract excerpt
Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with...
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