Muscle biopsy shows an absence of phosphorylase, the presence of subsarcolemmal vacuoles, and increased glycogen accumulation.
[what-when-how.com]
The diagnosis is confirmed by biochemical analysis of muscle and molecular analysis of blood cells.
[what-when-how.com]
This test, however, is falling out of favor as a diagnostic tool because it produces false positive results, is not specific, can be painful, and may result in focal muscle
[what-when-how.com]