Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. To explore an often‐overlooked splicing effect of missense …

Mutations in the gene encoding calpain‐3 (CAPN3) cause autosomal recessive limb‐girdle
muscular dystrophy type 2A (LGMD2A) and idiopathic eosinophilic myositis. Accurate …

Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or
LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of …

Variants of unknown significance in the CAPN3 gene constitute a significant challenge for
genetic counselling. Despite the frequency of intronic nucleotide changes in this gene (15 …

Whole‐genome sequencing (WGS) now allows identification of multiple variants in non‐
coding regions. The large number of variants identified by WGS however complicates their …

Small molecule pharmacological inhibition of dominant human genetic disease is a feasible
treatment that does not rely on the development of individual, patient‐specific gene therapy …

Background Splicing variants are a major class of pathogenic mutations, with their severity
equivalent to nonsense mutations. However, redundant and degenerate splicing signals …

Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …

Calpainopathies constitute a heterogeneous group of disorders resulting from deficiencies
in calpains, calcium‐specific proteases that modulate substrates by limited proteolysis …

Recessive mutations of CAPN3 gene are reported to be responsible for limb girdle muscular
dystrophy type 2A (LGMD2A). In all, 15–25% of intronic nucleotide changes identified in this …