Nuclear laminopathies are a group of human genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Among them, mutations in LMNAcause diverse phenotypes. De novo LMNA variants have been ...

Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most ...

Latin America (LA) has a population of ∼645 million people distributed over 33 countries with marked political, cultural and economic differences. In LA, patients with inherited neuromuscular diseases (NMDs) often do not ...

Muscular Dystrophies (MD) are a group of rare inherited diseases that cause weakness and progressive degeneration of muscle tissue. The clinical symptoms of these pathologies overlap, hindering differential diagnosis, which ...

“Mascadera” is a chronic emaciating neuropathy affecting goats; it produces significant economic losses in many regions and its cause is unknown. Here, the histological lesions found in 15 animals naturally affected by the ...