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Heterogeneous patterns of tissue injury in NARP syndrome by Jeffrey M. Gelfand; Jacque L. Duncan; Caroline A. Racine; Leslie A. Gillum; Cynthia T. Chin; Yuhua Zhang; Qing Zhang; Lee-Jun C. Wong; Austin Roorda; Ari J. Green is a Medicine article available to read on EtoBox.
What is Heterogeneous patterns of tissue injury in NARP syndrome about?
Point mutations at m.8993T>C and m.8993T>G of the mtDNA ATPase 6 gene cause the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome, a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. We performed detailed neurological, neuropsychological and ophthalmological phenotyping of a mother and four daughters with NARP syndrome from the mtDNA m.8993T>C ATPase 6 mutation, including 3-T brain MRI, spectral domain optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), electromyography and nerve conduction studies (EMG-NCS) and formal neuropsychological testing. The degree of mutant heteroplasmy for the m.8993T>C mutation was evaluated by real-time allele refractory mutation system quantitative PCR of mtDNA from hair bulbs (ectoderm) and blood leukocytes (mesoderm). There were marked phenotypic differences between family members, even between individuals with the greatest degrees of ectodermal and mesodermal heteroplasmy. 3-T MRI revealed cerebellar atrophy and cystic and cavitary T2 hyperintensities in the basal ganglia. SD-OCT demonstrated similarly heterogeneous areas of neuronal and axonal los
Who reads Heterogeneous patterns of tissue injury in NARP syndrome?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Jeffrey M. Gelfand; Jacque L. Duncan; Caroline A. Racine; Leslie A. Gillum; Cynthia T. Chin; Yuhua Zhang; Qing Zhang; Lee-Jun C. Wong; Austin Roorda; Ari J. Green
- Publisher
- Springer; Springer-Verlag; Dr. Dietrich Steinkopff Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-5354)
- Published
- 2010
- Language
- EN
- Field
- Medicine (Health Sciences)