Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR ε subunit gene

Annals of the New York Academy of Sciences

Volumn 841, Issue , 1998, Pages 184-188

  Milone, Margherita ^a   Ohno, Kinji ^a   Fukudome, Takayasu ^a   Shen, Xin Ming ^a   Brengman, Joan ^a   Griggs, Robert C ^b   Engel, Andrew G ^a,c  

^a Muscle Research Laboratory   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR;

ADULT; CASE REPORT; CONFERENCE PAPER; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MUSCLE ATROPHY; MUSCLE FATIGUE; MYASTHENIA; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; RECEPTOR GENE;

EID: 0031879507     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1998.tb10925.x     Document Type: Conference Paper

References (9)

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