A brief history of the congenital myopathies – the myopathological perspective

Congenital myopathies are defined by early clinical onset, slow progression, hereditary nature and disease-specific myopathological lesions – however, with exceptions – demanding special techniques in regard to morphological diagnostic and research work-up. […] Together with the diagnostic evolution of molecular genetics, many more congenital myopathies were described, without new disease-specific lesions or only already known ones. These were nosographically defined by individual mutations in hitherto congenital myopathies-unrelated genes. This latter development may also affect the nomenclature of congenital myopathies in that the mutant gene needs to be attached to the individually identified congenital myopathies with or without the disease-specific lesion, such as CCD-RYR1 or CM-RYR1. This principle is similar to that of the nomenclature of Congenital Disorders of Glycosylation. Retroactive molecular characterization of originally and first described congenital myopathies has only rarely been achieved.