Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

doi:10.1007/s00415-024-12821-3

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Article

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Journal of neurology - 7 Jan 2025

Muelas Nuria, Carretero-Vilarroig Lidón, Martí Pilar, Azorín Inmaculada, Frasquet Marina, Poyatos-García Javier, Portela Sofía, Martínez-Vicente Laura, Argente-Escrig Herminia, Sivera Rafael, Vázquez-Costa Juan F, Tárrega María, Más-Estellés Fernando, Vílchez Roger, Bataller Luis, Aller Elena, Diago Luján, Fores-Toribio Lorena, Sevilla Teresa, Vilchez Juan J

Abstract excerpt

BACKGROUND: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown. METHODS: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors...

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PMID: 39775307
DOI: 10.1007/s00415-024-12821-3

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