Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Neuromuscular Disorders

Volumn 14, Issue 1, 2004, Pages 24-32

  Yasaki, Eriko ^a,b   Prioleau, Cassandra ^a   Barbier, Julien ^c   Richard, Pascale ^a   Andreux, Frédéric ^a   Leroy, Jean Paul ^a,d   Dartevelle, Philippe ^e   Koenig, Jeanine ^a,f   Molgó, Jordi ^c   Fardeau, Michel ^a   Eymard, Bruno ^a   Hantaï, Daniel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c LABORATOIRE DE NEUROBIOLOGIE CELLULAIRE ET MOLÉCULAIRE   (France)

^d CHU MORVAN   (France)

^e CENTRE CHIRURGICAL MARIE LANNELONGUE   (France)

^f UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Acetylcholine receptor deficiency; Congenital myasthenic syndrome; Neuromuscular junction; Rapsyn; Synaptic depression

Indexed keywords

CHOLINERGIC RECEPTOR; RAPSYN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIPLOPIA; EATON LAMBERT SYNDROME; ELECTROPHYSIOLOGY; FATIGUE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE POTENTIAL; MUTATIONAL ANALYSIS; NEUROMUSCULAR SYNAPSE; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RECEPTOR DENSITY;

EID: 10744220900     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.07.002     Document Type: Article

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