Myopathy, Myofibrillar, 8 (MFM8)

Myopathy, Myofibrillar, 8, also known as myofibrillar myopathy 8, is related to congenital muscular dystrophy-dystroglycanopathy a14 and myasthenic syndrome, congenital, 12. An important gene associated with Myopathy, Myofibrillar, 8 is PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1), and among its related pathways/superpathways is Glycosylation and related congenital defects. Affiliated tissues include lung and skeletal muscle, and related phenotypes are muscle weakness and hyporeflexia