The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

Human Molecular Genetics

Volumn 21, Issue 17, 2012, Pages 3765-3775

  Cossins, Judith ^a   Liu, Wei Wei ^a   Belaya, Katsiaryna ^a   Maxwell, Susan ^a   Oldridge, Michael ^c   Lester, Tracy ^c   Robb, Stephanie ^b   Beeson, David ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ALPHA TUBULIN; CHOLINERGIC RECEPTOR; PROTEIN DOK 7; PYRIDOSTIGMINE; SALBUTAMOL; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CONGENITAL MYASTHENIC SYNDROME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE STIMULATION; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR TRANSMISSION; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RNA SPLICING; RNA TRANSCRIPTION; SCHOOL CHILD; STRIDOR; TREATMENT RESPONSE; UNITED KINGDOM;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; OPEN READING FRAMES; RECEPTORS, CHOLINERGIC; SEQUENCE ALIGNMENT; SYNAPSES; TRANSFECTION;

EID: 84865067553     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds198     Document Type: Article

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