Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study
E Bertini, C Bosman, E Ricci, S Servidei, R Boldrini… - Acta …, 1991 - Springer
Acta neuropathologica, 1991•Springer
The clinical, morphological and biochemical findings of a sporadic case, showing
accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are
described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl
sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in
agreement with those of Rappaport et al.(FEBS Lett. 231: 421–425, 1989). A sensory-motor
polyneuropathy was established by electrophysiological studies and, ultrastructurally …
accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are
described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl
sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in
agreement with those of Rappaport et al.(FEBS Lett. 231: 421–425, 1989). A sensory-motor
polyneuropathy was established by electrophysiological studies and, ultrastructurally …
Summary
The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS Lett. 231:421–425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.
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