Clinical and molecular characterization of limb‐girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients

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...

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Veröffentlicht in:	Clinical genetics 2024-11, Vol.106 (5), p.644-649
Hauptverfasser:	Gaviraghi, Tobias, Cavalcanti, Eduardo B. U., Lorenzoni, Paulo José, Cotta, Ana, Souza, Paulo V. S., Oliveira, André D., 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., 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Brazil - epidemiology Case reports Child Child, Preschool Clinical trials Cohort Studies Connectin - genetics epidemiology Female Genetic Predisposition to Disease Humans LGMD2G LGMDR7 limb‐girdle muscular dystrophy Literature reviews Male Middle Aged Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - epidemiology Muscular Dystrophies, Limb-Girdle - genetics Muscular dystrophy Mutation natural history Orthopedic apparatus Pedigree Phenotype Population genetics Population studies TCAP telethonin Young Adult
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