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peripheral nervou system

Location matters – Genotype-Phenotype correlation in LRSAM1 mutations associated with rare…

Charcot-Marie-Tooth disease (CMT) is the most common form of genetically-determined peripheral neuropathy, clinically characterized by progressive distal muscle weakness and atrophy with decreased or absent deep tendon reflexes. With an…

Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively…

Z-band alternatively spliced PDZ-motif containing protein (ZASP) is a sarcomeric protein expressed in human cardiac and skeletal muscles at the Z-disk. The gene coding for ZASP is also known as LIM domain binding 3 (LDB3) and maps on…

Whole-Exome Sequencing Identifies a Heterozygous Mutation in SLC12A6 Associated with Hereditary…

Charcot–Marie–Tooth disease (CMT), also known as hereditary sensory and motor neuropathy (HSMN), is the most common inherited disorder of the peripheral nervous system with high phenotypic and genetic heterogeneity . CMT shares clinical…

Impaired secretion of platelet granules in patients with Duchenne musclular dystrophy – results of a…

Duchenne muscular dystrophy (DMD) is a rare X-linked neuromuscular disease with progressive course caused by mutations in the dystrophin gene. Due to the X-linked mode of inheritance male individuals are affected almost exclusively by the…