Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …

There are scarce publications regarding the presentation and outcome of Becker muscular
dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease …

Background: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin,
cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart …

The 263rd ENMC International Workshop was convened in Amsterdam 13th-15th May 2022.
This was a hybrid meeting (participants took part either face to face or virtual via an on-line …

Abstract Background Between 8% and 22% of female carriers of DMD mutations exhibit
clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers …

DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy
while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in …

Mutations in the SGCA gene cause limb girdle muscular dystrophy type 2D (LGMD2D). We
report a family with three affected siblings with a mild phenotype consisting of late onset …

This chapter first explains the incidence or prevalence of congenital anomalies or genetic
disorders. Many factors influence efforts to accurately determine the incidence or prevalence …

We appreciate the opportunity to address the concerns raised by our esteemed colleagues.
However, we wish to underscore the importance of precision and context in assessing the …

A group of heterogeneous muscle diseases are caused by dystrophin gene (DMD)
mutations. We hereby present a male patient with a diagnosis of symptomatic dilated …