Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene

European Journal of Medical Genetics

Volumn 51, Issue 3, 2008, Pages 245-250

  Monroy, Nancy ^a   Macías Kauffer, Luis R ^a   Mutchinick, Osvaldo M ^a  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

Author keywords

ECGF1 gene; MNGIE disease; New mutation; TP enzyme deficiency

Indexed keywords

ADULT; ARTICLE; CASE REPORT; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; HYPERTRIGLYCERIDEMIA; MALE; MNGIE SYNDROME; SCHOOL CHILD;

ADULT; FEMALE; HUMANS; MALE; MEXICO; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PEDIGREE; THYMIDINE PHOSPHORYLASE;

EID: 43149088948     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.12.007     Document Type: Article

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