Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: Clinical, genetic and neuroradiological features

Journal of Neurology

Volumn 254, Issue 2, 2007, Pages 146-153

  Schupbach W M M ^a,e   Vadday, K Madhavi ^b   Schaller, A ^c   Brekenfeld, C ^a   Kappeler, L ^a   Benoist, J F ^d   Xuan Huong, C Nguyen Thi ^d   Burgunder, J M ^a,b   Seibold, F ^a   Gallati, S ^c   Mattle, H P ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Magnetic resonance spectroscopy; Mitochondrial neurogastrointestinal encephalomyopathy MNGIE; Thymidine phosphorylase

Indexed keywords

CHOLINE; IMMUNOGLOBULIN; N ACETYLASPARTIC ACID; THYMIDINE;

ADULT; AMINO ACID URINE LEVEL; ARTICLE; BRAIN LEVEL; CACHEXIA; CASE REPORT; CELL LOSS; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITION; GASTROINTESTINAL MOTILITY DISORDER; GENE MUTATION; GENETIC ANALYSIS; GLIA CELL; HETEROZYGOSITY; HUMAN; ILEUS; INTESTINE RESECTION; LABORATORY TEST; LEUKOENCEPHALOPATHY; MALE; MNGIE SYNDROME; MONOZYGOTIC TWINS; MULTIPLE CYCLE TREATMENT; MUSCLE ATROPHY; NERVE CELL; NERVE FIBER; NEUROIMAGING; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPHTHALMOPLEGIA; POLYNEUROPATHY; PRIORITY JOURNAL; STRABISMUS; URINALYSIS;

ADULT; CORPUS STRIATUM; DISEASES IN TWINS; EXONS; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; NEURAL CONDUCTION; SEQUENCE ANALYSIS, DNA; SIBLINGS; SUBSTANTIA NIGRA; THYMIDINE; THYMIDINE PHOSPHORYLASE;

EID: 33847639864     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0255-3     Document Type: Article

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