Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy

Yonsei Medical Journal

Volumn 54, Issue 3, 2013, Pages 578-582

  Sim, Jae Eun ^a   Park, Hyung Jun ^a   Shin, Ha Young ^a   Nam, Tai Seung ^b   Kim, Seung Min ^a   Choi, Young Chul ^a  

^a Yonsei University College of Medicine   (South Korea)

^b Chonnam National University Medical School   (South Korea)

Author keywords

Genotype; GNE; Phenotype

Indexed keywords

CREATINE KINASE; MANNOSAMINE; N ACETYLMANNOSAMINE KINASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; DNA EXTRACTION; DNA SEQUENCE; ELECTROMYOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GNE GENE; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; POLYMERASE CHAIN REACTION;

GENOTYPE; GNE; PHENOTYPE;

ADOLESCENT; ADULT; CREATINE KINASE; DISTAL MYOPATHIES; FEMALE; HUMANS; MALE; MULTIENZYME COMPLEXES; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA;

EID: 84875892186     PISSN: 05135796     EISSN: None     Source Type: Journal    
DOI: 10.3349/ymj.2013.54.3.578     Document Type: Article

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