Genetic and Family Studies of Inherited Muscle Diseases
Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII
About this trial
This is an observational trial for Dermatomyositis focused on measuring Myopathy, Phosphofructokinase, Acid Maltase, Pompe, Muscle Diseases, Genetic Muscle Diseases
Eligibility Criteria
Patients known to have PFK deficiency, GAA deficiency or other known genetic muscle diseases and their clinically affected relatives. Clinically unaffected family members of patients with PFK deficiency, GAA deficiency or other known genetic muscle diseases, including both blood relatives and spouses. Control subjects. These will be individuals whose DNA has been gathered and coded by other investigators and provided to us solely for the purpose of population surveys of mutation frequency. Among such controls, may be unaffected individuals of the same racial or geographic origin as those with a particular mutation. If a convenient bank of such anonymous samples is unavailable, we will seek such individuals among those who work at the NIH or their families or friends.
Sites / Locations
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)