Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation

Journal of Neurology

Volumn 252, Issue 6, 2005, Pages 655-662

  Said, Gérard ^a   Lacroix, Catherine ^a   Planté Bordeneuve, Violaine ^a   Messing, Bernard ^b   Slama, Abdelhamid ^a   Crenn, Pascal ^c   Nivelon Chevallier, Annie ^d   Bedenne, Laurent ^d   Soichot, Pierre ^d   Manceau, E ^d   Rigaud, Daniel ^d   Guiochon Mantel, Anne ^a   Matuchansky, Claude ^b  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c BICHAT HOSPITAL   (France)

^d DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

Mitochondriopathies; Nerve biopsy; Peripheral neuropathy

Indexed keywords

ALANINE; AMINO ACID; ASPARTIC ACID; GLUTAMIC ACID; GLYCINE; LEUCINE; LYSINE; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; ENCEPHALOMYOPATHY; ENDOTHELIUM CELL; EYE MOVEMENT CONTROL; EYE MOVEMENT DISORDER; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; INTESTINE PSEUDOOBSTRUCTION; MALE; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MYONEUROGASTROINTESTINAL ENCEPHALOPATHY; MOLECULAR GENETICS; MORPHOLOGICAL TRAIT; MUSCLE BIOPSY; MYELIN SHEATH; NERVE BIOPSY; NERVE FIBER DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PATHOPHYSIOLOGY; POLYNEUROPATHY; PRIORITY JOURNAL; SCHWANN CELL; SIBLING; SUPRANUCLEAR OPHTHALMOPLEGIA;

ADULT; BIOPSY; CEREBELLUM; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLES; MUTATION; NERVE FIBERS, MYELINATED; NEURAL CONDUCTION; RETROSPECTIVE STUDIES; THYMIDINE PHOSPHORYLASE;

EID: 20844450579     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-005-0712-4     Document Type: Article

References (11)

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