A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations

Table 3

Muscle biopsy results.

Muscle biopsy features	Family A	Family B
	II:1	II:1
Source of sample	Skeletal muscle, unspecified site.	Right vastus lateralis
Findings	Myopathy with minicores. Minimal fibre size variation. Main abnormality is the widespread architectural abnormality in fibres seen in the oxidative stains, ranging from unevenness to minicores and present in both fibre types.	Shows minimum departure from the normal with presence of a few scattered small slow fibres.