Congenital myasthenic syndrome caused by mutations in DPAGT

Neuromuscular Disorders

Volumn 25, Issue 3, 2014, Pages 253-256

  Klein, Andrea ^a   Robb, Stephanie ^b   Rushing, Elisabeth ^c   Liu, Wei Wei ^d   Belaya, Kasiaryna ^d   Beeson, David ^d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Congenital myasthenia; Differential diagnosis to congenital myopathy; DPAGT1

Indexed keywords

PYRIDOSTIGMINE; SALBUTAMOL; DOLICHYL-PHOSPHATE ALPHA-N-ACETYLGLUCOSAMINYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL MYASTHENIC SYNDROME; DOWN REGULATION; DPAGT GENE; DRUG RESPONSE; ELECTROMYOGRAPHY; FACIAL WEAKNESS; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; JOINT LAXITY; LIMB WEAKNESS; MALE; MEDICAL HISTORY; MUSCLE EXCITATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROMUSCULAR TRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PTOSIS; WECHSLER INTELLIGENCE SCALE FOR CHILDREN; ARM; DIFFERENTIAL DIAGNOSIS; GENETICS; HEK293 CELL LINE; LEG; METABOLISM; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOTONIA CONGENITA; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ARM; DIAGNOSIS, DIFFERENTIAL; HEK293 CELLS; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOTONIA CONGENITA; N-ACETYLGLUCOSAMINYLTRANSFERASES;

EID: 84955637432     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.11.013     Document Type: Article

References (12)

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