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  • 1
    Digitale Medien
    Digitale Medien
    Autosomal recessive hypermyelinating neuropathy (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 337-342 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Polyneuropathy ; Hereditary motor and sensory neuropathy ; Demyelination ; Myelin sheath foldings
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00313601
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study (1991)
    Springer
    Acta neuropathologica 81 (1991), S. 632-640 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Polyneuropathy ; Cardiomyopathy ; Desmin ; Neurofilaments ; Cytoplasmic bodies
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00296373
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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