Ensayos clínicos

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.