The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

Neuropediatrics

Volumn 48, Issue 4, 2017, Pages 294-308

  McMacken, Grace ^a   Abicht, Angela ^b   Evangelista, Teresinha ^a   Spendiff, Sally ^a   Lochmüller, Hanns ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Medizinisch Genetisches Zentrum   (Germany)

Author keywords

congenital myasthenic syndromes; genetic diagnosis; neuromuscular junction; neurophysiology

Indexed keywords

AMIFAMPRIDINE; CHOLINE ACETYLTRANSFERASE; CHOLINESTERASE INHIBITOR; COLLAGEN; COLLAGEN LIKE TAIL SUBUNIT; CORE PROTEIN; DOK7 PROTEIN; EPHEDRINE; FLUOXETINE; PROTEIN SLC5A7; QUINIDINE; RAPSYN; SALBUTAMOL; SODIUM GLUCOSE COTRANSPORTER; SYNAPTOTAGMIN II; UNCLASSIFIED DRUG;

APNEA; ARTICLE; ASSISTED VENTILATION; BIOCHEMISTRY; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DIFFERENTIAL DIAGNOSIS; DRUG CONTRAINDICATION; GENE MUTATION; GENETIC VARIABILITY; GLYCOSYLATION; HUMAN; MUSCLE DISEASE; MUSCULAR DYSTROPHY; NEUROIMAGING; NEUROMUSCULAR JUNCTION; NEUROMUSCULAR TRANSMISSION; NEUROPHYSIOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; GENETICS; METABOLISM; PHENOTYPE;

HUMANS; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE;

EID: 85019205057     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0037-1602832     Document Type: Article

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