Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation

Neurology

Volumn 59, Issue 12, 2002, Pages 1881-1888

  Shen, X M ^a   Ohno, K ^a   Fukudome, T ^a   Tsujino, A ^a   Brengman, J M ^a   De Vivo, D C ^b   Packer, R J ^c   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b Columbia University ^*  (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MYASTHENIA; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0037168777     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000042422.87384.2F     Document Type: Article

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