Abstract
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 with closely packed neurofilaments. Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of giant axonal neuropathy and to other conditions of peripheral neuropathy with giant axons.
| Original language | English |
|---|---|
| Pages (from-to) | 1-10 |
| Number of pages | 10 |
| Journal | Journal of the Neurological Sciences |
| Volume | 109 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1992 |
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Keywords
- Cardiomyopathy
- Desmin
- Giant axonal neuropathy
- Neurofilament
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology
Cite this
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. / Sabatelli, Mario; Bertini, Enrico; Ricci, Enzo; Salviati, Giovanni; Magi, Stefania; Papacci, Manuela; Tonali, Pietro.
In: Journal of the Neurological Sciences, Vol. 109, No. 1, 1992, p. 1-10.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
AU - Sabatelli, Mario
AU - Bertini, Enrico
AU - Ricci, Enzo
AU - Salviati, Giovanni
AU - Magi, Stefania
AU - Papacci, Manuela
AU - Tonali, Pietro
PY - 1992
Y1 - 1992
N2 - 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 with closely packed neurofilaments. Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of giant axonal neuropathy and to other conditions of peripheral neuropathy with giant axons.
AB - 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 with closely packed neurofilaments. Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of giant axonal neuropathy and to other conditions of peripheral neuropathy with giant axons.
KW - Cardiomyopathy
KW - Desmin
KW - Giant axonal neuropathy
KW - Neurofilament
UR - http://www.scopus.com/inward/record.url?scp=0026607351&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026607351&partnerID=8YFLogxK
U2 - 10.1016/0022-510X(92)90086-Z
DO - 10.1016/0022-510X(92)90086-Z
M3 - Article
C2 - 1517757
AN - SCOPUS:0026607351
VL - 109
SP - 1
EP - 10
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1
ER -