Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

The genomic distribution of cleavage and polyadenylation (polyA) sites should be co-
evolutionally optimized with the local gene structure. Otherwise, spurious polyadenylation …

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

The plakin family consists of giant proteins involved in the cross-linking and organization of
the cytoskeleton and adhesion complexes. They further modulate several fundamental …

Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

Plectin is a large, 500-kDa, intermediate filament (IF)-associated protein. It acts as a
cytoskeletal crosslinker and signaling scaffold, affecting mechanical as well as dynamic …

The limb-girdle muscular dystrophies (LGMDs) are a diverse group of genetic
neuromuscular conditions that usually manifest in the proximal muscles of the hip and …

Plectin, a giant multifunctional cytolinker protein, plays a crucial role in stabilizing and
orchestrating intermediate filament networks in cells. Mutations in the human plectin gene …

Limb‐girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of
neuromuscular disorders that are associated with weakness and wasting of muscles in legs …