Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

Neuromuscular Disorders

Volumn 25, Issue 1, 2015, Pages 60-69

  Azuma, Yoshiteru ^a   Nakata, Tomohiko ^a   Tanaka, Motoki ^a   Shen, Xin Ming ^b   Ito, Mikako ^a   Iwata, Satoshi ^a   Okuno, Tatsuya ^a   Nomura, Yoshiko ^c   Ando, Naoki ^d   Ishigaki, Keiko ^e   Ohkawara, Bisei ^a   Masuda, Akio ^a   Natsume, Jun ^a   Kojima, Seiji ^a   Sokabe, Masahiro ^a   Ohno, Kinji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MAYO CLINIC   (United States)

^c Segawa Neurological Clinic for Children   (Japan)

^d NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Acetylcholine receptor; Congenital myasthenic syndromes; Endplate acetylcholine receptor deficiency; Fast channel syndrome; Slow channel syndrome

Indexed keywords

MUSCLE NICOTINIC ACETYLCHOLINE RECEPTOR; MUSCLE NICOTINIC ACETYLCHOLINE RECEPTOR SUBUNIT; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR BETA; NICOTINIC RECEPTOR DELTA; NICOTINIC RECEPTOR EPSILON; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG; PROTEIN SUBUNIT;

ACETYLCHOLINE RECEPTOR SUBUNIT GENE; ADOLESCENT; ADULT; ALLELE; ARTICLE; CELL SURFACE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DNA POLYMORPHISM; EMBRYO; ETHNICITY; EUROPEAN AMERICAN; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; JAPAN; JAPANESE (PEOPLE); MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PROTEIN EXPRESSION; RNA SPLICING; SCHOOL CHILD; ETHNOLOGY; GENETICS; HEK293 CELL LINE; METABOLISM; MUTATION; PEDIGREE; PHYSIOLOGY; PROTEIN SUBUNIT; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; FEMALE; HEK293 CELLS; HUMANS; JAPAN; MALE; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SUBUNITS; RECEPTORS, NICOTINIC; YOUNG ADULT;

EID: 84919665308     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.09.002     Document Type: Article

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