105 research outputs found
Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
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Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family
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Stabiel en progressief gehoorverlies bij Usher-syndroom type 2A
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Stable and progressive hearing loss in type 2A Usher's syndrome
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A novel missense mutation in theNDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
No full textMitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy
No full textLeber's hereditary optic neuropathy (LHON) is characterized by subacute loss of central vision due to bilateral optic nerve atrophy accompanied by several nonspecific clinical findings. The only pathognomonic feature is its strictly maternal inheritance. It was therefore impossible to establish the diagnosis in patients with no known affected matrilinear sibs, until several mutations in the mitochondrial DNA (mtDNA) were discovered in relation to LHON. The authors describe the case histories and the occurrence of six mtDNA mutations in eight presumed singleton LHON patients and discuss the clinical and genetic implications of the result
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