Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series

IntroductionGFPT1-related congenital myasthenic syndrome (CMS) is a rare, autosomal recessive disorder that impairs neuromuscular transmission due to defective glycosylation of the neuromuscular junction. While typically presenting with limb-girdle weakness, tubular aggregates on biopsy, and a favor...

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Autori principali: Antonio Edvan Camelo-Filho, Gustavo Rodrigues Ferreira Gomes, Pedro Lucas Grangeiro Sá Barreto Lima, Vitória Maria Torres Peixoto, Tamiris Mariano, Ellen Mourão Soares Lopes, Raquel Diógenes Alencar, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2025-11-01
Serie:Frontiers in Neurology
Soggetti:
congenital myasthenia syndromes (CMS)
GFPT1
muscle ultrasound
neuromuscular disorder
Heckmatt scale
Accesso online:https://www.frontiersin.org/articles/10.3389/fneur.2025.1683325/full
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