Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles

Journal of Human Genetics

Volumn 56, Issue 4, 2011, Pages 335-338

  Li, Honghao ^a   Chen, Qi ^b   Liu, Fuchen ^a   Zhang, Xuemei ^c   Liu, Tao ^a   Li, Wei ^a   Liu, Shuping ^a   Zhao, Yuying ^a   Wen, Bing ^a   Dai, Tingjun ^a   Lin, Pengfei ^d   Gong, Yaoqin ^d   Yan, Chuanzhu ^a,d  

^a SHANDONG UNIVERSITY   (China)

^b YANTAI YUHUANGDING HOSPITAL   (China)

^c Jinan Hospital of Dermatosis   (China)

^d SHANDONG UNIVERSITY   (China)

Author keywords

Chinese; distal myopathy with rimmed vacuoles; GNE; hereditary inclusion body myopathy

Indexed keywords

URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL VACUOLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; SEQUENCE ANALYSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DISTAL MYOPATHIES; DNA PRIMERS; GENE FREQUENCY; GENES, RECESSIVE; HUMANS; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; SEQUENCE ANALYSIS, DNA; VACUOLES;

EID: 79955506304     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2011.15     Document Type: Article

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