DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

Neurology

Volumn 82, Issue 20, 2014, Pages 1822-1830

  Selcen, Duygu ^a   Shen, Xin Ming ^a   Brengman, Joan ^a   Li, Ying ^a   Stans, Anthony A ^a   Wieben, Eric ^b   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; EDROPHONIUM; GLYCOPROTEIN; MUTANT PROTEIN; PHOSPHOTRANSFERASE; PYRIDOSTIGMINE; UDP N ACETYLGLUCOSAMINE DOLICHYL PHOSPHATE N ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARTICLE; AUTISM; AUTOPHAGY; CASE REPORT; ELECTROCARDIOGRAM; ELECTROMYOGRAM; ENZYME ACTIVITY; EXOME; EXON SKIPPING; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MYASTHENIA; MYOPATHY; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; WEAKNESS;

ADOLESCENT; CHILD; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE; SYNAPSES;

EID: 84902196188     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000435     Document Type: Article

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