PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

Neurology

Volumn 82, Issue 14, 2014, Pages 1254-1260

  Régal, Luc ^a   Shen, Xin Ming ^c   Selcen, Duygu ^c   Verhille, Chantal ^b   Meulemans, Sandra ^a   Creemers, John W M ^a   Engel, Andrew G ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; PYRIDOSTIGMINE;

ARTICLE; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; CYSTINURIA; ELECTROPHYSIOLOGY; ENDPLATE POTENTIAL; EXTRACHROMOSOMAL INHERITANCE; FEEDING DISORDER; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GROWTH HORMONE DEFICIENCY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPOTONIA CYSTINURIA SYNDROME; IMMUNOBLOTTING; IN VITRO STUDY; INFANT; MONOGENIC DISORDER; MUSCLE WEAKNESS; NERVE ENDING; NEUROMUSCULAR TRANSMISSION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREPL DEFICIENCY; PREPL GENE; PRIORITY JOURNAL; PTOSIS; SLC3A1 GENE; TREATMENT RESPONSE; ULTRASTRUCTURE;

CHROMOSOMES, HUMAN, PAIR 2; CYSTINURIA; FEMALE; GENE DELETION; HUMANS; INFANT; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; SERINE ENDOPEPTIDASES;

EID: 84902178453     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000295     Document Type: Article

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