Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
M Sabatelli, E Bertini, E Ricci, G Salviati, S Magi… - Journal of the …, 1992 - Elsevier
A sporadic case (female, aged 14 years) is reported who was affected by myopathy,
restrictive cardiomyopathy and sensory motor polyneuropathy. A muscle biopsy showed
accumulation of osmiophilic granular and filamentous material on electron microscopy,
which stained positively in immunofluorescence for desmin. Increased desmin
phosphorylated isoforms have been demonstrated by one-and two-dimensional
electrophoresis. Sural nerve biopsy showed a peripheral neuropathy with giant axons, filled …
restrictive cardiomyopathy and sensory motor polyneuropathy. A muscle biopsy showed
accumulation of osmiophilic granular and filamentous material on electron microscopy,
which stained positively in immunofluorescence for desmin. Increased desmin
phosphorylated isoforms have been demonstrated by one-and two-dimensional
electrophoresis. Sural nerve biopsy showed a peripheral neuropathy with giant axons, filled …