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  • 1
    Electronic Resource
    Electronic Resource
    Growing old: the most common mitochondrial disease of all? (1992)
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 251-252 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mitochondrial DNA (mtDNA) is a small (16.5 kilobase) circular molecule which is almost exclusively maternally transmitted. It encodes 13 of the 67 or so subunits of the mitochondrial respiratory chain and oxidative phosphorylation system, in complexes I, III, IV and V. In the last five years, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1292-251
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  • 2
    Electronic Resource
    Electronic Resource
    Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies (1988)
    [s.l.] : Nature Publishing Group
    Nature 331 (1988), S. 717-719 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The term mitochondrial myopathy (MM) describes a heterogeneous group of disorders which share the common feature of major structural mitochondrial abnormalities in skeletal muscle. The clinical features are variable and include proximal muscle weakness, external ophthalmoplegia, pigmentary ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/331717a0
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  • 3
    Electronic Resource
    Electronic Resource
    The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival (1993)
    Springer
    Acta neuropathologica 86 (1993), S. 29-35 
    Details
    ISSN: 1432-0533
    Keywords: Friedreich's ataxia ; Sensory neuropathy ; Distal axonopathy ; Hypomyelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Observations have been made on a patient with Friedreich's ataxia who died 52 years after the onset of symptoms. The pathology of the brain and spinal cord was typical of this disorder. Apart from loss of dorsal root ganglion cells, severe loss of secondary sensory neurons was observed, including the nucleus dorsalis in the spinal cord, the spinal and principal trigeminal nuclei and, in particular, the mesencephalic trigeminal nucleus in the brain stem. Morphometric studies on the first sacral nerve root and on the sural nerve at levels from midthigh to ankle revealed a distally accentuated axonal loss that predominantly affected larger myelinated nerve fibres. Regenerative activity was seen, mainly in the spinal root and proximally in the sural nerve. Relative myelin thickness, assessed by g ratios, tended to be reduced. As teased fibre studies showed only limited evidence of demyelination/remyelination and of axonal regeneration, this therefore suggests the presence of hypomyelination. The results confirm the presence of a distal axonopathy and provide no evidence that this is preceded by axonal atrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00454895
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  • 4
    Electronic Resource
    Electronic Resource
    Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy (1991)
    [s.l.] : Nature Publishing Group
    Nature 352 (1991), S. 77-79 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] X-linked spinal and bulbar muscular atrophy (SBMA) is characterized by progressive muscle weakness and atrophy1, but affected males also may have gynecomasda and reduced fertility, suggesting a defect in androgen receptor function2. A recent study showed decreased androgen binding to cultured ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/352077a0
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  • 5
    Electronic Resource
    Electronic Resource
    Peripheral neuropathy in the Chediak-Higashi syndrome (1991)
    Springer
    Acta neuropathologica 81 (1991), S. 354-358 
    Details
    ISSN: 1432-0533
    Keywords: Peripheral neuropathy ; Chediak-Higashi syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The clinical features of a brother and sister with the Chediak-Higashi syndrome (CHS) are reported. Both showed evidence of a sensory neuropathy associated with central nervous system involvement. Nerve conduction studies indicated an “axonal” neuropathy. Sural nerve biopsy in the brother demonstrated a loss of myelinated nerve fibres, particularly those of larger size, and of unmyelinated axons. In contradistinction to some previous reports, giant lysosomes in Schwann cells were not observed and there were no inflammatory changes. Electron microscopy and teased-fibre studies showed no evidence of demyelination. It is concluded that the neuropathy of CHS is of axonal type. Its mechanism remains obscure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00305881
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  • 6
    Electronic Resource
    Electronic Resource
    Mitochondrial gene defects in patients with NIDDM (1994)
    Springer
    Diabetologia 37 (1994), S. 372-376 
    Details
    ISSN: 1432-0428
    Keywords: Key words Genetics, diabetes mellitus, mitochondria, maternal, deafness.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Non-insulin-dependent diabetes mellitus (NIDDM) has a strong genetic component and maternal factors have recently been implicated in disease inheritance. The mitochondrial myopathies are a group of diseases which often show maternal inheritance as a result of mtDNA defects; some patients have impaired glucose tolerance. Occasional families with maternally inherited diabetes and deafness associated with a deletion or point mutation of mtDNA have been reported. To assess the importance of mitochondrial gene defects in NIDDM, 150 unrelated diabetic subjects from Wales, UK and 68 unrelated patients with diabetes and at least one affected sibling from England, UK were studied. Southern blot analysis did not show any large mtDNA deletions or duplications. One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. This mutation is commonly associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS). Study of this patient and his siblings showed a distinct form of late-onset diabetes associated with nerve deafness but no clinical features of the MELAS syndrome. No diabetic subject was shown to have the mtDNA mutation at position 8344 (tRNAlys) which has previously been described in the syndrome of mitochondrial encephalomyopathy and red-ragged fibres (MERRF). The role of other mitochondrial gene defects in diabetes and the pathophysiological basis of glucose intolerance in patients with the MELAS mutation requires further elucidation. [Diabetologia (1994) 37: 372–376]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00408473
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  • 7
    Electronic Resource
    Electronic Resource
    Mitochondrial gene defects in patients with NIDDM (1994)
    Springer
    Diabetologia 37 (1994), S. 372-376 
    Details
    ISSN: 1432-0428
    Keywords: Genetics ; diabetes mellitus ; mitochondria ; maternal ; deafness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Non-insulin-dependent diabetes mellitus (NIDDM) has a strong genetic component and maternal factors have recently been implicated in disease inheritance. The mitochondrial myopathies are a group of diseases which often show maternal inheritance as a result of mtDNA defects; some patients have impaired glucose tolerance. Occasional families with maternally inherited diabetes and deafness associated with a deletion or point mutation of mtDNA have been reported. To assess the importance of mitochondrial gene defects in NIDDM, 150 unrelated diabetic subjects from Wales, UK and 68 unrelated patients with diabetes and at least one affected sibling from England, UK were studied. Southern blot analysis did not show any large mtDNA deletions or duplications. One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. This mutation is commonly associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS). Study of this patient and his siblings showed a distinct form of late-onset diabetes associated with nerve deafness but no clinical features of the MELAS syndrome. No diabetic subject was shown to have the mtDNA mutation at position 8344 (tRNAlys) which has previously been described in the syndrome of mitochondrial encephalomyopathy and red-ragged fibres (MERRF). The role of other mitochondrial gene defects in diabetes and the pathophysiological basis of glucose intolerance in patients with the MELAS mutation requires further elucidation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00408473
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  • 8
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA polymorphism in mitochondrial myopathy (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 53-57 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In order to test the hypothesis that mitochondrial myopathy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leucocyte mt DNA has been studied in 38 patients with mitochondrial myopathy, 44 of their unaffected matrilineal relatives, and 35 normal control subjects. Previously unreported mt DNA polymorphisms were identified in both patients and controls. No differences in restriction fragment patterns were observed between affected and unaffected individuals in the same maternal line, and there was no evidence of major deletion of mt DNA in patients. This study provides no positive evidence of mitochondrial inheritance in mitochondrial myopathy, but this has not been excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291710
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  • 9
    Electronic Resource
    Electronic Resource
    Central nervous system involvement in Leber's optic neuropathy (1993)
    Springer
    Journal of neurology 240 (1993), S. 251-253 
    Details
    ISSN: 1432-1459
    Keywords: Leber's optic neuropathy ; Magnetic resonance imaging ; Parinaud's syndrome ; Oculopalatal myoclonus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six months after the onset of visual loss a 23-year-old male patient with Leber's optic neuropathy associated with a mitochondrial DNA mutation developed brain stem involvement with Parinaud's syndrome and oculopalatal myoclonus. Magnetic resonance imaging (MRI) revealed a high signal area in the brain stem, corresponding to a hypodense area in the CT scan that did not show contrast enhancement. Distinct diminution but not complete remission of the MRI findings was found in the 5-year follow-up, which was not accompanied by clinical improvement. Although the MRI findings were compatible with a demyelinating lesion, neither extensive evoked potential studies nor spinal fluid examination supported this.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00818714
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  • 10
    Electronic Resource
    Electronic Resource
    EEG and evoked potential findings in mitochondrial myopathies (1993)
    Springer
    Journal of neurology 240 (1993), S. 367-372 
    Details
    ISSN: 1432-1459
    Keywords: Electroencephalography ; Evoked potentials ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Electroencephalograms (EEGs) and evoked potentials (EPs) were studied in 43 patients with mitochondrial myopathies. Abnormalities were found most frequently in patients who presented predominantly or exclusively with central nervous system (CNS) dysfunction (abnormal EEGs in 18 of 21 patients, abnormal EPs in 9 of 11 patients). However, of patients presenting with ocular myopathy or proximal muscle weakness who had little or no CNS involvement clinically, 8 of 22 had abnormal EEGs and 5 of 10 had abnormal EPs, suggesting that electrophysiological tests are of value in demonstrating subclinical CNS disease in mitochondrial myopathy, although the abnormalities are not specific.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00839969
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