Novel ε subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome 451

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 4, 2009, Pages 450-451

  Outteryck, O ^a   Richard, P ^b   Lacour, A ^a   Fournier, E ^b   Zaphir H ^a   Gaudon, K ^b   Eymard, B ^b   Hantai, D ^b   Vermersch, P ^a   Stojkovic, T ^a,b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; EPSILON CHOLINERGIC RECEPTOR; FLUOXETINE; QUINIDINE; UNCLASSIFIED DRUG; CHRNE PROTEIN, HUMAN; NICOTINIC RECEPTOR;

ADULT; CASE REPORT; CLINICAL EXAMINATION; CONGENITAL MYASTHENIC SYNDROME; DIPLOPIA; ELECTROMYOGRAM; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; LIMB WEAKNESS; MALE; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; NERVE STIMULATION; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SCOLIOSIS; SOMNOLENCE; STRABISMUS; ELECTROMYOGRAPHY; FAMILY; GENETICS; MOTONEURON; MUTATION; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHYSIOLOGY; SKELETAL MUSCLE;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY; FEMALE; HUMANS; MALE; MOTOR NEURONS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEURAL CONDUCTION; PEDIGREE; RECEPTORS, CHOLINERGIC; RECEPTORS, NICOTINIC;

EID: 64749102383     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.148189     Document Type: Letter

References (5)

1. Fidzianska A, Ryniewicz B, Xing-Ming Shen, et al. IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AchR epsilon subunit. Neuromusc Disord 2005;15:753-9.
2. Engel AG, Sine SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005;5:308-21.
3. Hanta D, Richard P, Koenig J, et al. Congenital myasthenic syndromes. Curr Opin Neurol2004;17:539-51.
4. Oostheruis HJ, Newsom-Davis J, Wokke JH, et al. The slow channel syndrome. Two new cases. Brain 1987;110:1061-79.
5. + permeability of the human endplate ACh receptor. J Physiol 2007;15:671-7.