Towards the molecular elucidation of congenital myasthenic syndromes: Identification of mutations in MuSK

Acta Myologica

Volumn 24, Issue 2, 2005, Pages 55-59

  Chevessier, F ^a   Faraut, B ^a   Ravel Chapuis, A ^b   Richard, P ^a   Gaudon, K ^a   Bauche S ^a   Prioleau, C ^a   Herbst, R ^c   Goillot, E ^b   Ioos, C ^a   Azulay, J P ^d   Attarian, S ^d   Leroy, J P ^e   Fournier, E ^a   Legay, C ^f   Schaeffer, L ^b   Koenig, J ^a,g   Fardeau, M ^a   Eymard, B ^a   Pouget, J ^d   Hantaï, Daniel ^a   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITÉ DE LYON   (France)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d TIMONE HOSPITAL   (France)

^e CHU MORVAN   (France)

^f ECOLE NORMALE SUPÉRIEURE   (France)

^g UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Congenital myasthenic syndrome; Genetic diseases; Neuromuscular junction; Skeletal muscle

Indexed keywords

CHOLINERGIC RECEPTOR; MUSCLE SPECIFIC RECEPTOR TYROSINE KINASE; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

CONFERENCE PAPER; CONGENITAL MYASTHENIC SYNDROME; ELECTROMYOGRAPHY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; MUSCLE BIOPSY; NEUROMUSCULAR SYNAPSE; NEUROTRANSMISSION; PATHOPHYSIOLOGY; SYNAPTIC MEMBRANE;

EID: 33344475534     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

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