Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

Journal of Neuromuscular Diseases

Volumn 2, Issue , 2015, Pages S21-S29

  Evangelista, Teresinha ^a   Hanna, Mike ^b   Lochmüller, Hanns ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DOCKING PROTEIN; EPHEDRINE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE 1; PYRIDOSTIGMINE; SALBUTAMOL; UNCLASSIFIED DRUG;

ALG14 GENE; ALG2 GENE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; COLQ GENE; CONGENITAL MYASTHENIC SYNDROME; DOK7 GENE; DPAGT GENE; ELECTROMYOGRAM; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GFPT1 GENE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; NERVE STIMULATION; NEUROMUSCULAR JUNCTION; NEUROMUSCULAR TRANSMISSION; NONHUMAN; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; RECESSIVE GENE;

EID: 85026856452     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-150098     Document Type: Article

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