New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy

Variant c.513 + 45 T > G in the LMNA gene likely translates into the longer lamin A/C proteins with additional 15 amino acids. This variant is thought to be pathogenic. Intronic variants in the LMNA gene located beside canonic splice sites may be responsible for some genotype-negative cases with clinical phenotype of laminopathies.