Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 193-201

  Belaya, Katsiaryna ^a,e   Finlayson, Sarah ^a,b   Slater, Clarke R ^c   Cossins, Judith ^a   Liu, Wei Wei ^a   Maxwell, Susan ^a   McGowan, Simon J ^d   Maslau, Siarhei ^e   Twigg, Stephen R F ^d   Walls, Timothy J ^f   Pascual Pascual, Samuel I ^g   Palace, Jacqueline ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; DOLICHYL PHOSPHATE (UDP N ACETYLGLUCOSAMINE) N ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE 1; PHOSPHOTRANSFERASE; TUNICAMYCIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; DOLICHYL-PHOSPHATE (UDP-N-ACETYLGLUCOSAMINE) N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE 1 GENE; ENDPLATE POTENTIAL; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION;

4-AMINOPYRIDINE; ADULT; CHOLINESTERASE INHIBITORS; FEMALE; GLYCOSYLATION; HUMANS; LOWER EXTREMITY; MALE; MIDDLE AGED; MOTOR ENDPLATE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; RECEPTORS, CHOLINERGIC; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS); TUNICAMYCIN;

EID: 84863985182     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.022     Document Type: Article

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