Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes

Neurology

Volumn 73, Issue 22, 2009, Pages 1926-1928

  Mihaylova, V ^a   Salih, M A M ^b   Mukhtar, M M ^c   Abuzeid, H A ^c   El Sadig, S M ^c   Von Der Hagen, M ^d   Huebner, A ^d   Nurnberg G ^e   Abicht, A ^a   Muller J S ^f   Lochmuller H ^f   Guergueltcheva, V ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c UNIVERSITY OF KHARTOUM   (Sudan)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINESTERASE; ANTIBIOTIC AGENT; ARGININE; COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; EPHEDRINE; MUSCLE SPECIFIC KINASE; PHOSPHOTRANSFERASE; PROLINE; PROTEIN TYROSINE KINASE; PYRIDOSTIGMINE; TYROSINE KINASE 7; UNCLASSIFIED DRUG; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; MUSK PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; CHILD; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONSANGUINEOUS MARRIAGE; DELTOID MUSCLE; DRUG DOSE INCREASE; DRUG MEGADOSE; DRUG WITHDRAWAL; EXERCISE; EXON; FACE DISORDER; FAMILY; FATHER; FATIGUE; FEMALE; FOLLOW UP; GAIT DISORDER; GAZE PARALYSIS; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GOWER SIGN; GRANDPARENT; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LORDOSIS; MALE; MISSENSE MUTATION; MUSCLE STIFFNESS; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PHENOTYPE; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; SHOULDER GIRDLE; SIBLING; SPEECH DISCRIMINATION; SUDAN; TRACHEOTOMY; CASE REPORT; FAMILY HEALTH; GENETICS; LONGITUDINAL STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

ADOLESCENT; ARGININE; CHOLINESTERASE INHIBITORS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; PROLINE; PYRIDOSTIGMINE BROMIDE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CHOLINERGIC; YOUNG ADULT;

EID: 73349142353     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c3fce9     Document Type: Article

References (7)

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