The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …

Intellectual disability (ID) has become very common and is an extremely heterogeneous
disorder, where the patients face many challenges with deficits in intellectual functioning …

POPDC1 also known as BVES, is a highly conserved transmembrane protein, important for
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …

Background Phosphoglycerate mutase (PGAM) deficiency is associated with a rare
glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants …

Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal
recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic …

Background Limb‐girdle muscular dystrophy (LGMD) comprises a heterogeneous group of
diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles …

Background: Salih myopathy, characterised by both congenital myopathy and fatal dilated
cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles …

Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous
genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in …

Background: Limb-girdle muscular dystrophy (LGMD) is a group of inherited neuromuscular
disorders characterized by atrophy and weakness in the shoulders and hips. Over 30 …