Clinical Trials

Inclusion Criteria - Patient:

• Patients aged 0-100 years with clinically documented and diagnosed inherited myopathy as determined by a Mayo Clinic neurologist.
  • NOTE: Only children with a clinically diagnosed heritable myopathy are eligible to participate in this study.
• Patients aged 0-100 years with either a known genetic mutation causative of the myopathy or predicted to be causative of the myopathy.
  • NOTE: Only children with a known genetic mutation causative or predicted to be causative of the myopathy are eligible to participate in this study.
• Children are only eligible for this study if they themselves have a heritable myopathy either clinically documented or known/predicted through genetic testing; children are not eligible to serve as controls.
• Adult patients with suspected hereditary myopathy on the basis of the clinical and/or muscle histopathological findings or a documented family history of myopathy.

Exclusion Criteria - Patient:

• Adult patients with acquired non-hereditary myopathy caused by other etiologies as estimated by the Mayo Clinic neurologist.

Inclusion Criteria - Biological Family Members:

• Adult biological family members who are clinically affected.
• Adult biological family members who are asymptomatic but carry the same genetic variant detected in the patient and predicted to be potentially deleterious.

Exclusion Criteria - Biological Family Members:

• Adult biological family members who are asymptomatic, clinically unaffected and who do not carry the predicted deleterious variant detected in the patient.
• Biological relatives <18 years of age who are mutation negative and/or disease-negative will be excluded.