Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (SCPNK)

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, also known as kaeser syndrome, is related to myopathy, myofibrillar, 9, with early respiratory failure and myopathy, myofibrillar, 1. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Transcriptional Regulatory Network in Embryonic Stem Cell. Related phenotypes are shoulder girdle muscle atrophy and scapuloperoneal weakness