title: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by mutations in the thymidine phosphorylase gene located on chromosome 22q13.32-ter, causing defective functioning of the enzyme. At present 87 sporadic or familial cases have been reported and 52 different mutations identified. We present herein the clinical, neuromuscular and molecular findings of two affected brothers from an indigenous Mexican family living in a very small village not far from Mexico City, both brothers being homozygous for a novel mutation (Leu133Pro) in exon 3 of the ECGF1 gene.
authors.affiliation: Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Vasco de Quiroga 15, Sección XVI, 14000 Mexico City, Mexico.
authors.forename: Nancy
authors.initials: N
authors.lastname: Monroy
authors.forename: Luis R
authors.initials: LR
authors.lastname: Macías Kauffer
authors.forename: Osvaldo M
authors.initials: OM
authors.lastname: Mutchinick
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D013939:Thymidine Phosphorylase / Q000235:genetics*
chemical_list: D013939:Thymidine Phosphorylase