Figure 3.

Ultrastructural analysis of skeletal muscle from the proband of the Macedonian family. (A and B) Fine filaments emanating at the Z-line level that coalesced into electron-dense inclusions under the sarcolemma or between the myofibrils are surrounded by groups of mitochondria (B). (C–E) Collections of tubulofilaments (right upper corner in C), granulofilamentous material and small vacuoles (left lower corner in C); small rod bodies at the periphery of a fibre region harbouring granulofilamentous material (D), fine electron-dense granulofilamentous material, vacuoles and sparse mitochondria between normal myofibrils (E). (F) Abnormal fibre region containing remnants of filaments, small rod bodies, and prominent electrondense inclusions. Scale bars: C = 0.5 µm; B, D and E = 1 µm; A, F = 2 µm.