| Main clinical features
|
early-onset rapidly progressive myofibrillar myopathy
in childhood, progressive limb and axial muscle weakness, and experienced development of cardiomyopathy and severe respiratory insufficiency in their teens
EMG conduction studies demonstrated myopathic motor unit potentials, and nerve conduction studies showed axonal and demyelinating peripheral neuropathy
electron microscopy showed disintegration of Z disks, extensive accumulation of granular debris and larger inclusions, and apoptosis of 8 p100 of the nuclei |