Article
Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.
Muscle & nerve - 1 Jun 2026
Guérémy Alexandre, Morel V, Stojkovic T, Bouhour F, Pakleza A Nadaj, Nectoux J, Fortanier E, Magot A, Sacconi S, Eymard B, Metay C, Duval F, Martin-Negrier M L, Cerino M, Michel L, Menassa R, Cossée M, du Closel L Barbat, Behin A, Leturcq F, Noury J B, Krahn M, Sole G, Pion E, Gorokhova S, Attarian S, Salort-Campana E
Abstract excerpt
INTRODUCTION/AIMS: LGMDR8 is a very rare autosomal recessive limb-girdle muscular dystrophy caused by variants in the TRIM32 gene. To date, 92 cases have been reported, mainly in the Hutterite population with a founder effect. This study aimed to describe a cohort of European origin and to investigate genotype-phenotype correlations. METHODS: We conducted a retrospective, multicenter study of 14 French patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.