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Multicenter Study
. 2024 Nov;106(5):644-649.
doi: 10.1111/cge.14589. Epub 2024 Jul 17.

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

Tobias Gaviraghi  1   2 , Eduardo B U Cavalcanti  3 , Paulo José Lorenzoni  4 , Ana Cotta  5 , Paulo V S de Souza  6 , André D de Oliveira  7 , Maria T de Moraes  8 , Marcos V O Marques  9 , Karina C Donis  10 , Pablo B Winckler  1 , Cynthia Costa E Silva  3 , Wladimir B V R Pinto  6 , Cláudia S K Kay  4 , Renata D Ducci  4 , Paula R V P Rodrigues  4 , Otto J H Fustes  4 , André M S da Silva  11 , Edmar Zanoteli  11 , Marcondes C França Jr  12   13 , Cláudia F R Sobreira  14 , Acary S B Oliveira  6 , Elmano H T Carvalho  5 , Rosana H Scola  4 , Alzira A S Carvalho  15 , Jonas Alex Morales Saute  1   2   10   16
Affiliations
Multicenter Study

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

Tobias Gaviraghi et al. Clin Genet. 2024 Nov.

Abstract

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 LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty-one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease.

Keywords: LGMD2G; LGMDR7; TCAP; epidemiology; limb‐girdle muscular dystrophy; natural history; telethonin.

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References

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