Limb girdle muscular dystrophy type 2A (LGMD2A) is the most frequent form of LGMD
worldwide. Comprehensive clinical assessment and laboratory testing is essential for …

NGS applications will soon be the first-tier test for skeletal muscle disorders. They will
improve the diagnosis in myopathic patients, promoting their inclusion into novel therapeutic …

Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …

Importance Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The
interpretation of the numerous rare variants identified inTTNis a difficult challenge given its …

The EuroBioBank (EBB) network (www. eurobiobank. org) is the first operating network of
biobanks in Europe to provide human DNA, cell and tissue samples as a service to the …

We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to
investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in …

Missense mutations in MYOT encoding the sarcomeric Z‐disk protein myotilin cause three
main myopathic phenotypes including proximal limb‐girdle muscular dystrophy, spheroid …

Muscular dystrophies are heterogeneous genetic disorders that share progressive muscle
wasting. This may generate partial impairment of motility as well as a dramatic and fatal …

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression,
including transcription and RNA processing. Mutations in SETX cause the recessive …

Although they are considered rare disorders, muscular dystrophies have a strong impact on
people's health. Increased disease severity with age, frequently accompanied by the loss of …