Dystrophinopathies are a group of distinct neuromuscular diseases that result from
mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include …

Aims To assess the reported prevalence of left ventricular non-compaction (LVNC) in
different adult cohorts, taking in to consideration the role of diagnostic criteria and imaging …

Skeletal muscle or cardiac symptoms are known to appear in a certain proportion of female
patients carrying the dystrophin gene mutation. There is limited high-quality evidence to …

Abstract Aims Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked
recessive disorders associated with both skeletal myopathy and progressive …

Methods The Delphi Consensus Initiative presented here is focused on how to reduce the
time to diagnosis of DMD. The development process for this initiative is summarized in …

Abstract Purpose of Review This review aims to outline the utility of cardiac magnetic
resonance (CMR) in patients with different types of muscular dystrophies for the assessment …

Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal
dominant and the third most common inherited muscle disease. Cardiac involvement is …

Duchenne muscular dystrophy (DMD), an X-linked recessive condition that results from
mutations in the DMD gene encoding the dystrophin protein. DMD occurs in approximately 1 …

RESUMO A Distrofia Muscular de Duchenne (DMD) é doença genética ligada ao X e afeta 1
a cada 3.600-6.000 nascidos vivos. Trata-se de doença progressiva e incapacitante …

Introduction: Dystrophinopathies, due to mutations in the dystrophin gene, include four
different phenotypes: Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy …