New horizons for congenital myasthenic syndromes

Annals of the New York Academy of Sciences

Volumn 1275, Issue 1, 2012, Pages 54-62

  Engel, Andrew G ^a   Shen, Xin Ming ^a   Selcen, Duygu ^a   Sine, Steven ^a  

^a MAYO CLINIC   (United States)

Author keywords

Acetylcholine receptor; Centronuclear myopathy; Choline acetyltransferase; Congenital myasthenic syndromes; DPAGT1; Fast channel syndromes; GFPT1; Plectin

Indexed keywords

CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; PLECTIN;

ARTICLE; BINDING SITE; CENTRONUCLEAR MYOPATHY; CHANNEL GATING; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MYASTHENIC SYNDROME; ENZYME DEFICIENCY; HUMAN; ISOMERIZATION; MISSENSE MUTATION; MUSCLE BIOPSY; NONSENSE MUTATION; PHENOTYPIC VARIATION; PROTEIN DEFICIENCY;

EID: 84871546603     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2012.06803.x     Document Type: Article

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