Inherited Muscle Diseases Repository


About this study

To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  1. Subjects with inherited metabolic myopathy or suspected inherited metabolic myopathy who had a non-diagnostic muscle biopsy, normal plasma acylcarnitines, normal commercially available muscle biochemical assay of glycolytic enzymes and CPT2 ( “myoglobinuria panel”).

  2. Subjects with muscular dystrophy and non-specific dystrophic changes on muscle biopsy, normal immunocytochemical studies for proteins associated with muscular dystrophies and at least 1 negative genetic test for the most likely candidate gene.

  3. Subjects with mitochondrial myopathy and normal muscle mitochondrial DNA analysis (no pathogenic point mutations or deletions/duplications).

  4. Subjects with congenital myopathies, vacuolar myopathies and other structural myopathies with at least 1 negative genetic test for the most likely candidate gene.

  5. Subjects with myotonic disorders and/or periodic paralysis with negative gene test for myotonic dystrophy type 1 and/or 2, and normal sequencing of CLCN1 and SCN4A if they have a normal muscle biopsy.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Margherita Milone, M.D., Ph.D.

Open for enrollment

Contact information:

Delana Weis CCRP

(507) 266-7196

More information


Publications are currently not available