Table 2.

Myopathological features in patients with myofibrillar myopathy caused by the BAG3 p.Pro209Leu mutation

Features	Family 1		Family 2	Family 3
	Patient 1–3	Patient 1–4	Patient 2–3	Patient 3–3
Biopsied muscle	Left triceps	(PM)	Right deltoid	Right vastus lateralis
LM: Variation of fiber size	+	NA	+	+
Abnormal desmin-positive inclusions	+	+*	+	+
EM: Myofibrillar breakdown	+	NA	+	+
Granulofilamentous material	+	NA	+	NA
Nerve biopsy: axonal loss, giant axons	NA	+	+	+

LM – light microscopy; EM – electron microscopy; (PM) – postmortem study;

^+*The description of postmortem study in this patient indicates accumulation of desmin between the myofibrils;

NA – data not available