Article
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2018
Monroy-Jaramillo Nancy, Cerón Aurelio, León Elizabeth, Rivas Verónica, Ochoa-Morales Adriana, Arteaga-Alcaraz María Georgina, Nocedal-Rustrian Fausto Carlos, Gallegos Cecilia, Alonso-Vilatela María Elisa, Corona Teresa, Flores José
Abstract excerpt
BACKGROUND: Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset, autosomal dominant disease involving microvessels of the brain and eye resulting in central nervous system degeneration with visual disturbances, stroke, motor impairment, and cognitive decline. Frameshift mutations at the C-terminus of TREX1 gene are the molecular cause of this disorder. OBJECTIVES: The objective of this...
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