| Main clinical features
|
muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties and often involvement of proximal and upper limb muscles
gait difficulties, foot drop, and muscle atrophy
ultrastructural studies confirmed the myofibrillar abnormalities, showing loss of normal striation, abnormal myofibril orientation, and disarray and fragmentation of the Z-lines with Z-line streaming and electron-dense inclusions |