Zobrazeno 1 - 10
of 117
pro vyhledávání: '"M G Sweeney"'
Autor:
M G Sweeney, Alexander J. Smith, Sharon Jenkins, M B Davis, F W Fitzke, Michel Michaelides, Pamela P. Rath, A C Bird
Publikováno v:
The British Journal of Ophthalmology
Introduction: The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not b
Publikováno v:
Angiología. 57:77-85
Eighty-nine index patients from 85 families were defined as having Leber hereditary optic neuropathy (LHON) by the presence of one of the mtDNA mutations at positions 11778 (66 families), 3460 (8 families), or 14484 (11 families). There were 62 secon
Autor:
L. Chimelli, Mary B. Davis, M. L. Paçó-Larson, Wilson Marques, Amilton Antunes Barreira, Nicholas W. Wood, M. G. Sweeney
Publikováno v:
Annals of the New York Academy of Sciences. 883:466-468
Autor:
M. D. Sanders, François-Xavier Borruat, M G Sweeney, J A Morgan-Hughes, E M Graham, W T Green
Publikováno v:
British Journal of Ophthalmology. 76:571-573
A case is reported of a 63-year-old man with progressive central visual loss in one eye followed 11 months later by involvement of the fellow eye. A diagnosis of chronic ischaemic optic neuropathy was considered. However, despite a negative family hi
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 66(6)
Connexin 32 (Cx32) is a gap junction protein expressed in the peripheral nervous system (PNS), central nervous system (CNS), and in many other tissues.1 Mutations in the Cx32 gene are associated with X-linked Charcot-Marie-Tooth disease (CMTX) , and
Publikováno v:
American journal of human genetics. 59(1)
Pedigree analysis of British families with Leber hereditary optic neuropathy (LHON) closely fits a model in which a pathogenic mtDNA mutation interacts with an X-linked visual loss susceptibility locus (VLSL). This model predicts that 60% of affected
Publikováno v:
Brain : a journal of neurology. 118
One hundred and seven patients from 79 families were defined as having Leber's hereditary optic neuropathy (LHON) by the presence of one of the mitochondrial DNA (mtDNA) mutations at positions 11778 (60 families), 3460 (seven families) or 14484 (12 f
Autor:
M G Sweeney, G G Govan, W. I. McDonald, I. F. Moseley, François-Xavier Borruat, S. P. Morrissey, DH Miller, A. E. Harding, M. A. Kelly, D. A. Francis
To elucidate the cause(s) of acute or subacute bilateral simultaneous optic neuropathy (BSON) in adult life, a follow up study of 23 patients was performed with clinical assessment, brain MRI, HLA typing, and mitochondrial DNA analysis. The results o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a2c0e8fbef103d7c07d334ab7f19ea6
https://europepmc.org/articles/PMC1073271/
https://europepmc.org/articles/PMC1073271/
Publikováno v:
Archives of disease in childhood. 71(5)
The mitochondrial DNA (mtDNA) mutation 8993 is an important cause of Leigh's encephalopathy. A family is reported where other affected members have presented with non-specific delayed development or cerebral palsy. The diagnosis should be considered
Publikováno v:
The Quarterly journal of medicine. 86(11)
A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probab