Muscular dystrophies

Eugenio Maria Mercuri, Francesco Muntoni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

246 Citazioni (Scopus)

Abstract

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes. Knowledge of disease-specific complications, implementation of anticipatory care, and medical advances have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected people. A better understanding of the mechanisms underlying the molecular pathogenesis of several disorders and the availability of preclinical models are leading to several new experimental approaches, some of which are already in clinical trials. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments.
Lingua originaleEnglish
pagine (da-a)845-860
Numero di pagine16
RivistaThe Lancet
Volume381
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • muscular

Fingerprint

Entra nei temi di ricerca di 'Muscular dystrophies'. Insieme formano una fingerprint unica.

Cita questo