The exact mechanisms of these diseases are not well understood. GNE/MNK a key enzyme in the sialic acid biosynthetic pathway, and loss-of-function mutations in GNE/MNK may lead to a lack of sialic acid, which in turn could affect sialoglycoproteins. GNE knockout mice show problems similar to people with IBM and in people with IBM dystroglycan has been found to lack sialic acid. However, the part of the dystroglycan that is important in muscle function does not seem to be affected. Another protein, neural cell adhesion molecule is under-sialyated in people with IBM, but as of 2016 it had no known role in muscle function.
Hereditary inclusion body myopathy
Centronuclear myopathy
Brody myopathy
Nemaline myopathy
Mitochondrial myopathy
Autophagic vacuolar myopathy
Bethlem myopathy
Desmin-related myofibrillar myopathy