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Digitale Medien

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies (1988)

Holt, I. J. ; Harding, A. E. ; Morgan-Hughes, J. A.

[s.l.] : Nature Publishing Group

Nature 331 (1988), S. 717-719

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Details

ISSN: 1476-4687

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Chemie und Pharmazie , Medizin , Allgemeine Naturwissenschaft , Physik

Notizen: [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 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/331717a0

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Digitale Medien

Mitochondrial DNA polymorphism in mitochondrial myopathy (1988)

Holt, I. J. ; Harding, A. E. ; Morgan-Hughes, J. A.

Springer

Human genetics 〈Berlin〉 79 (1988), S. 53-57

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: 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.