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  • Digitale Medien  (4)
  • Myopathy  (2)
  • Demyelination  (1)
  • Key words: Reducing body myopathy – Desmin storage  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments (1993)
    Springer
    Virchows Archiv 422 (1993), S. 327-331 
    Details
    ISSN: 1432-2307
    Schlagwort(e): Myopathy ; Cardiomyopathy ; Slow myosin heavy chain
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of theβ-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01608343
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  • 2
    Digitale Medien
    Digitale Medien
    Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 106-112 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Key words: Reducing body myopathy – Desmin storage
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. We describe clinical, morphological and biochemical findings of a patient with reducing body myopathy (RBM). This 15-year-old patient was affected by severe limb-girdle progressive myopathy with asymmetric distribution. Muscle biopsy showed many fibers with cytoplasmic polymorphic masses, which stained dark purple with modified Gomori's trichrome, associated with proliferation of cytoplasmic bodies. Cytoplasmic polymorphic masses showed marked reducing activity with menadione-nitro blue tetrazolium reaction. Ultrastructurally, there was great amount of highly electron-dense tubular-filamentous structures of 16 – 17 nm in diameter. Immunohistochemistry showed that many fibers were positive for desmin. Sodium dodecyl sulfate-electrophoresis disclosed an increase in two bands of approximately 53 and 70 kDa, and Western blot demonstrated that the 53-kDa band was desmin. It was not possible to characterize the 70-kDa protein further.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00386261
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  • 3
    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
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  • 4
    Digitale Medien
    Digitale Medien
    An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1 (2000)
    Springer
    Neurological sciences 21 (2000), S. 99-102 
    Details
    ISSN: 1590-3478
    Schlagwort(e): Key words ARQS-IBM ; Linkage ; Vacuoles ; Myopathy ; Filaments ; Quadriceps
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM). The patients (two second cousins) developed a slowly progressive distal and proximal myopathy with complete sparing of the quadriceps. Muscle biopsy showed rimmed vacuoles in numerous muscle fibers, and electron microscopy documented accumulation of 15–21 nm filaments, DNA analysis established linkage to 9p1 and haplotype analysis revealed that the patients shared a recombined common haplotype. The gene locus of ARQS-IBM was initially mapped to chromosome 9p1-q1 in families of Iranian-Jewish origin and later confirmed in a few other ethic groups. This is the first report of Italian patients with ARQS-IBM showing positive linkage to chromosome 9p1. Our data suggest that patients having distal and proximal myopathy with rimmed vacuoles and possible recessive inheritance, often classified as distal myopathies, should be thoroughly investigated according to the diagnostic criteria of h-IBM and, when positive, studied for linkage to chromosome 9p1.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s100720070103
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