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Author

Milena Babugia Pinto

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Open access 2026

Familial manifestation of limb-girdle muscular dystrophy associated with FKTN gene: a case report

Abstract Introduction: to report a familial case of Limb-girdle muscular dystrophy, type C, 4 (MDDGC4) associated with a homozygous mutation in FKTN gene, highlighting phenotypic variability, diagnostic delay, and atypical clinical features described in the pediatric literature. Description: two siblings were evaluated...

Milena Babugia Pinto, Fernanda Isabely Morgan Magalhães, V. T. Ebihara et al. · 0 citations

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