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

Lipid metabolism disorder is closely related to metabolic diseases, inflammation, and
cancer. The concentration of citrate in the cytosol has a significant impact on lipid synthesis …

Lipids are a class of complex hydrophobic molecules derived from fatty acids that not only
form the structural basis of biological membranes but also regulate metabolism and maintain …

Mitochondria influence cellular function through both cell-autonomous and non-cell
autonomous mechanisms, such as production of paracrine and endocrine factors. Here, we …

Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by
gene defects associated with the neuromuscular junction and potentially treatable with …

Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause
incorrect communication between the nerves and muscles. The specific causes of NMDs are …

Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders
affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a …

The mitochondrial citrate carrier (CIC) is a nuclear-encoded protein located in the inner
mitochondrial membrane. By mediating efflux of citrate from the mitochondria to the cytosol …

Congenital Myasthenic Syndromes Overview - Abstract - Europe PMC Sign in | Create an
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Congenital myasthenic syndromes (CMS) are a group of rare, neuromuscular disorders that
usually present in childhood or infancy. While the phenotypic presentation of these disorders …