Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 10, 2013, Pages 1064-

  Ohno, Kinji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINESTERASE INHIBITOR; CREATINE KINASE; DOLICHYL PHOSPHATE(URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE) N ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE 1; EPHEDRINE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE 1; PHOSPHOTRANSFERASE; SALBUTAMOL; UNCLASSIFIED DRUG;

CONGENITAL MYASTHENIC SYNDROME; EXTRAOCULAR MUSCLE; EYELID MUSCLE; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCLE WEAKNESS; MUSCLE WEAKNESS; NOTE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION;

EID: 84877742889     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-304931     Document Type: Note

References (6)

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