[Congenital muscular dystrophy phenotypes].

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[Congenital muscular dystrophy phenotypes].

Medicina - 1 Aug 2026

Nascimento Andrés, Ortez Carlos, Expósito Jessica, Carrera Laura, Cerezo Silvia, Lotz-Esquivel Stephanie, Zschaeck Irene, Lujan Agustín, Gatnau Chiara, Estévez-Arias Berta, Tizzano Eduardo, Natera De Benito Daniel

Abstract excerpt

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscle weakness and dystrophic changes on muscle biopsy, typically presenting at birth or in early infancy. Although classically defined by hypotonia and delayed motor development, CMDs are now recognized as part of a broader phenotypic continuum, with...

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PMID: 42659544

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