Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation

European Journal of Neurology

Volumn 14, Issue 5, 2007, Pages 581-585

  Carod Artal, F J ^a   Herrero, M D ^b   Lara, M C ^c   Lopez Gallardo E ^b   Ruiz Pesini, E ^b   Marti R ^c   Montoya, J ^b  

^a SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Cognitive dysfunction; DNA deletions; Hypogonadotropic hypogonadism; Mitochondrial neurogastrointestinal encephalopathy; Thymidine phosphorylase gene

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

ADULT; ANAMNESIS; ARTICLE; BRAZIL; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; MNGIE SYNDROME; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; STOP CODON;

ADULT; BRAIN; BRAZIL; CODON, NONSENSE; COGNITION DISORDERS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GASTROINTESTINAL DISEASES; GENE DELETION; GENETIC MARKERS; HUMANS; HYPOGONADISM; MALE; MEMORY DISORDERS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; THYMIDINE PHOSPHORYLASE;

EID: 34247126028     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01720.x     Document Type: Article

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