Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

Neuromuscular Disorders

Volumn 14, Issue 3, 2004, Pages 202-207

  Banwell, Brenda L ^a   Ohno, Kinji ^b   Sieb, Joern P ^c   Engel, Andrew G ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MAYO CLINIC   (United States)

^c General Hospital   (Germany)

Author keywords

3,4 Diaminopyridine; Congenital myasthenic syndrome; Human rapsyn deficiency; Therapy

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINERGIC RECEPTOR; PYRIDOSTIGMINE; RAPSYN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTRACTURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE COURSE; DISEASE SEVERITY; EATON LAMBERT SYNDROME; ELECTROMYOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTERCOSTAL MUSCLE; MALE; MEMBRANE POTENTIAL; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE FATIGUE; MUSCLE WEAKNESS; NERVE ENDING; NONSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY FAILURE; SCHOOL CHILD; STATISTICAL SIGNIFICANCE;

EID: 1242316360     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.11.004     Document Type: Article

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