Heterogeneous patterns of tissue injury in NARP syndrome
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analyzing patterns of classroom interaction in efl classrooms in iran
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NARP syndrome and adult-onset generalised seizures.
The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and adult onset. We describe a patient who developed clumsiness and visual problems in her teens. She h...
متن کاملNARP Syndrome: A 20-Year Follow-Up
One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, ...
متن کاملNeuropathy, ataxia and retinitis pigmentosa (NARP) syndrome
Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropath...
متن کاملCone and rod dysfunction in the NARP syndrome.
AIMS Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). METHODS A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was perfo...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2010
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-010-5775-1