Diagnosis depends on findings from muscle biopsy, electromyography, ischemic forearm testing, creatine kinase testing, patient history, and physical examination. [3] Biochemical
[emedicine.com]
Diagnosis depends on patient history and physical examination, muscle biopsy, electromyelography, ischemic forearm test, and creatine kinase level.
[humpath.com]
In some cases, liver transplantation may abolish biochemical abnormalities. Active research continues.
[emedicine.com]