GNE myopathy: New name and new mutation nomenclature

Neuromuscular Disorders

Volumn 24, Issue 5, 2014, Pages 387-389

  Huizing, Marjan ^a   Carrillo Carrasco, Nuria ^b   Malicdan, May Christine V ^a   Noguchi, Satoru ^c   Gahl, William A ^a   Mitrani Rosenbaum, Stella ^d   Argov, Zohar ^d   Nishino, Ichizo ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Distal Myopathy with Rimmed Vacuoles (DMRV); GNE Myopathy; Hereditary Inclusion Body Myopathy (HIBM); Inclusion Body Myopathy 2 (IBM2); Nonaka myopathy; Sialic acid; UDP GlcNAc 2 epimersa ManNAc kinase

Indexed keywords

MESSENGER RNA; ISOPROTEIN; MULTIENZYME COMPLEX; RNA ISOFORM; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

AMINO ACID ANALYSIS; ARTICLE; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GNE GENE; HUMAN; MUTATOR GENE; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSCRIPTION; CHEMISTRY; CLASSIFICATION; DISTAL MYOPATHY; GENETIC DATABASE; GENETICS; MUTATION; NOMENCLATURE;

DATABASES, GENETIC; DISTAL MYOPATHIES; HUMANS; MULTIENZYME COMPLEXES; MUTATION; PROTEIN ISOFORMS; RNA ISOFORMS; TERMINOLOGY AS TOPIC;

EID: 84899100284     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.03.004     Document Type: Article

References (8)

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