Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Neuromuscular Disorders

Volumn 24, Issue 1, 2014, Pages 31-35

  Gallenmüller, Constanze ^a   Felber, Wolfgang Müller ^a   Dusl, Marina ^a   Stucka, Rolf ^a   Guergueltcheva, Velina ^a,b   Blaschek, Astrid ^a   von der Hagen, Maja ^c   Huebner, Angela ^c   Müller, Juliane S ^d   Lochmüller, Hanns ^d   Abicht, Angela ^a,e  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e Medical Genetic Center   (Germany)

Author keywords

Congenital myasthenic syndromes; MUSK related CMS; Neuromuscular transmission; Salbutamol treatment

Indexed keywords

CHOLINERGIC RECEPTOR; CREATINE KINASE; PYRIDOSTIGMINE; SALBUTAMOL;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; CONSANGUINITY; DRUG DOSE INCREASE; DRUG WITHDRAWAL; ECHOGRAPHY; ETHNIC GROUP; EXERCISE TOLERANCE; EXON; FATIGUE; GENE; GENE DELETION; HUMAN; HUMAN TISSUE; LIMB GIRDLE CONGENITAL MYASTHENIC SYNDROME; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE EXERCISE; MUSCLE WEAKNESS; MUSK GENE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; TURKEY (REPUBLIC); TURKISH;

ACETYLCHOLINE ESTERASE; ACETYLCHOLINE RECEPTOR; ACHE; ACHR; CK; CMAP; CMS; COMPOUND MUSCLE ACTION POTENTIAL; CONGENITAL MYASTHENIC SYNDROME; CONGENITAL MYASTHENIC SYNDROMES; CREATINE KINASE; MUSK-RELATED CMS; NEUROMUSCULAR TRANSMISSION; SALBUTAMOL TREATMENT;

ALBUTEROL; ALLELES; HUMANS; MALE; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CHOLINERGIC; SEQUENCE DELETION; SIBLINGS;

EID: 84891930371     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.08.002     Document Type: Article

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