| Main clinical features
|
pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles
hearing loss and hoarseness followed the onset of distal muscle weakness
MRI showed fatty replacement in affected muscles, and muscle biopsies showed variation of fiber size and shape and subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions |