Table 2. Main histological findings in skeletal muscle biopsies from five patients.

IN: internalized nuclei. FSV: abnormally increased fiber size variation.

Patient	Age at biopsy	Muscle sampled	Major findings
AIII.2	4 years	Quadriceps	IN, FSV, type1 fiber predominance (95%) and hypotrophy, minimal endomysial fibrosis, whorled fibers, minicores
BIII.1	9 years	Quadriceps	Reported as normal
CIII.7	2 months	Quadriceps	IN, FSV, type1 fiber predominance and hypotrophy, endomysial fibrosis
DII.2	27 years	Biceps brachii	IN, FSV, type 1 fiber predominance (99%), minicores, rimmed sarcolemma
EII.4	56 years	2 Quadriceps biopsies	IN, FSV, type 1 fiber predominance, lobulated fibers; minicores in one biopsy; rods, cytoplasmic bodies and caps in a second biopsy