Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

Neuromuscular Disorders

Volumn 12, Issue 6, 2002, Pages 548-553

  Byring, R ^a,b   Pihko, H ^c   Tsujino, A ^d   Shen, X M ^d   Gustafsson, B ^e   Hackman, P ^f   Ohno, K ^d   Engel, A G ^d   Udd, B ^a  

^a VAASA CENTRAL HOSPITAL   (Finland)

^b FOLKHÄLSAN RESEARCH CENTER   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d MAYO CLINIC   (United States)

^e Hospital of Jakobstad   (Finland)

^f FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

Author keywords

Choline acetyl transferase; Congenital myasthenic syndrome; Episodic apnea; Sudden infant death

Indexed keywords

CHOLINE ACETYLTRANSFERASE;

APNEA; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DNA DETERMINATION; DYSPNEA; ELECTROPHYSIOLOGY; FEMALE; FEVER; HUMAN; HUMAN TISSUE; MORPHOLOGY; MUTATION; MYASTHENIA GRAVIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SUDDEN INFANT DEATH SYNDROME;

ACETYLCHOLINE; APNEA; CHILD; CHOLINE O-ACETYLTRANSFERASE; CONSANGUINITY; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MICROSCOPY, ELECTRON; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; SUDDEN INFANT DEATH;

EID: 0036310759     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00336-4     Document Type: Article

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