Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of …

Objective: To develop recommendations for the evaluation, diagnosis, prognostication, and
treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and …

Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal
muscle wasting, including of the respiratory muscles. Respiratory failure, ie. when the …

The limb‐girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous,
autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with …

Congenital muscular dystrophies (CMDs) are a group of inherited conditions defined by
muscle weakness occurring before the acquisition of ambulation, delayed motor milestones …

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that
manifest with very early onset of muscular weakness, sometime associated to severe brain …

Objective To evaluate the diagnostic outcomes in a large cohort of congenital muscular
dystrophy (CMD) patients using traditional and next generation sequencing (NGS) …

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The
combination of clinical, biochemical, and molecular genetic findings must be considered to …