Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1474-1484

  Abicht, Angela ^a,b   Dusl, Marina ^a   Gallenmüller, Constanze ^a   Guergueltcheva, Velina ^a,c   Schara, Ulrike ^d   Della Marina, Adele ^d   Wibbeler, Eva ^d   Almaras, Sybille ^a   Mihaylova, Violeta ^a,c   von der Hagen, Maja ^e   Huebner, Angela ^e   Chaouch, Amina ^f   Müller, Juliane S ^f   Lochmüller, Hanns ^f  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Medical Genetics Center Munich   (Germany)

^c UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

CMS; Congenital myasthenic syndromes; Genotype phenotype correlation; Neuromuscular

Indexed keywords

ADOLESCENT; ADULT; ALGORITHM; ARTICLE; CHAT GENE; CHILD; CHRNA1 GENE; CHRNB1 GENE; CHRND GENE; CHRNE GENE; COHORT ANALYSIS; COLQ GENE; CONGENITAL MYASTHENIC SYNDROME; DOK7 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GFPT1 GENE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUSK GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RAPSN GENE; SCHOOL CHILD;

COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTORS, CHOLINERGIC;

EID: 84866272011     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22130     Document Type: Article

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