The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and
phenotypic variability. Traditionally, neurophysiology and histopathology were primarily …

Genomic technologies have transformed clinical genetic testing, underlining the importance
of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in
the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle …

Aims Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic
variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third …

Hereditary myopathies are a group of genetically determined muscle disorders comprising
more than 300 entities. In Chile, there are no specific registries of the distinct forms of these …

Dysferlinopathy is one of the most common subgroup of autosomal recessive limb‐girdle
muscular dystrophies that is caused by mutations in DYSF gene. However, there is currently …

Background and Objectives Our objective was to report 2 novel variants and to reclassify
previously reported alanyl-tRNA synthetase 1 (AARS1) variants associated with hereditary …

Background Advances in technology and knowledge have facilitated both an increase in the
number of patient variants reported and variants reclassified. While there is currently no duty …

Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle
weakness and degeneration. They are caused by mutations in the DYSF gene, which …

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in
LGMD-related genes, with most of them classified as variants of uncertain significance …