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  • 1
    Electronic Resource
    Electronic Resource
    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
    Keywords: Recuding body myopathy ; Desmin storage peripheral nerves [3, 16, 20] ; We describe a new condition of desmin storage in a patient with typical reducing body myopathy (RBM)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00386261
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  • 2
    Electronic Resource
    Electronic Resource
    Giant axonal neuropathy: report on a case with focal fiber loss (1992)
    Springer
    Acta neuropathologica 83 (1992), S. 543-546 
    Details
    ISSN: 1432-0533
    Keywords: Giant axonal neuropathy ; Intermediate filaments
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report on a 5 1/2 year-old boy with chronic progressive polynèuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310034
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    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
    Keywords: Polyneuropathy ; Cardiomyopathy ; Desmin ; Neurofilaments ; Cytoplasmic bodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296373
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  • 4
    Electronic Resource
    Electronic Resource
    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
    Keywords: Key words: Reducing body myopathy – Desmin storage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00386261
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (1987)
    Springer
    Acta neuropathologica 74 (1987), S. 248-258 
    Details
    ISSN: 1432-0533
    Keywords: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE) syndrome ; Cytochrome-c-oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688189
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  • 6
    Electronic Resource
    Electronic Resource
    Infectivity of influenza B virus in cultured human muscle (1987)
    Springer
    Acta neuropathologica 73 (1987), S. 67-76 
    Details
    ISSN: 1432-0533
    Keywords: Acute myositis ; Creatine kinase ; Immunocytochemistry ; Influenza B virus ; Muscle culture
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Severe muscle symtoms, particularly in children, are frequently associated with influenza B virus infection. In this study we examined the effects of influenza B virus (Lee Strain) on cultured human muscle by light and electron microscopy (EM), immunofluorescence, hemadsorption and plaque assays. Muscle injury was also evaluated by the appearance of muscle-specific creatine kinase (CK) in the culture medium. By fluorescence immunocytochemistry viral antigen was demonstrated in muscle cell nuclei within 3h postinoculation (p.i.) and in the cytoplasm at 6 h p.i. Membrane-associated viral antigen was seen at 16 h p.i., at which time budding influenza virus-like particles could be demonstrated by EM, both in myoblasts and multinucleated myotubes. At 16 h all cells were hemadsorption positive. Plaque assays showed peak virus production at 48 h (p.i.), at which time cytopathic effects (cell retraction, pycnosis and cytoplasmic vacuolization) were prominent and some cells detached from the substratum. Leakage of muscle-specific CK isozyme into the culture medium could be demonstrated as early as 6 h p.i. with peak enzyme activity around 40–48 h p.i. Cytopathic changes and virus production were observed both in myoblasts and myotubes indicating that both cell types are susceptible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00695504
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  • 7
    Electronic Resource
    Electronic Resource
    Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 367-374 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage to facioscapulohumeral muscular dystrophy locus (FSHD) in a series of 16 Italian families. We found that, in two families, the disease is not linked to the 4q35 markers, indicating the presence of genetic heterogeneity among Italian FSHD families. Linkage analysis in the remaining families supports the order cen-D4S171-D4S163-D4S139-D4S810-FSHD-qter, in agreement with the physical map from the literature. EcoRI digestion and hybridization with the distal marker p13E-11 (D4S810) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. detected DNA rearrangements in the affected members of both sporadic and familial cases of FSHD, with family-specific fragments ranging in size between 15 kb and 28 kb. In three sporadic FSHD cases, the appearance of a new “small” fragment not present in either parent was clearly associated with the development of FSHD disease. However, in the familial cases analyzed, we observed two recombinations between all four 4q35 markers and the disease locus in apparently normal subjects, leaving open the possibility of nonpenetrance of the FSHD mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201595
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  • 8
    Electronic Resource
    Electronic Resource
    Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 856-858 
    Details
    ISSN: 1432-1076
    Keywords: Multicore myopathy ; Restrictive cardiomyopathy ; Desmin accumulation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072073
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  • 9
    Electronic Resource
    Electronic Resource
    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
    Keywords: Key words ARQS-IBM ; Linkage ; Vacuoles ; Myopathy ; Filaments ; Quadriceps
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070103
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  • 10
    Electronic Resource
    Electronic Resource
    Autosomal recessive hypermyelinating neuropathy (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 337-342 
    Details
    ISSN: 1432-0533
    Keywords: Polyneuropathy ; Hereditary motor and sensory neuropathy ; Demyelination ; Myelin sheath foldings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313601
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