Disease/Disorder Definition Central core myopathy (CCM) is a rare and widely variable genetic condition characterized by truncal and proximal muscle weakness. It is most commonly caused by an autosomal dominant (AD) mutation of the RYR1 gene and can place some The post Central Core Myopathy appeared first on PM&R KnowledgeNow.| PM&R KnowledgeNow
Disease/Disorder Definition Pompe Disease (PD), also referred to as Type 2 Glycogenesis or Acid Maltase Deficiency, is a glycogen storage disease that occurs due to an inherited deficiency in lysosomal acid-α-glucosidase (GAA, or acid maltase), an enzyme encoded on chromosome The post Pompe Disease appeared first on PM&R KnowledgeNow.| PM&R KnowledgeNow