Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

Neuromuscular Disorders

Volumn 22, Issue 6, 2012, Pages 505-510

  Park, Young Eun ^a,b   Kim, Hyang Sook ^b   Lee, Chang Hoon ^a,b   Nam, Tai Seung ^c   Choi, Young Chul ^d   Kim, Dae Seong ^a,b  

^a Pusan National University School of Medicine   (South Korea)

^b Research Institute for Convergence of Biomedical Science and Technology   (South Korea)

^c Chonnam National University Medical School   (South Korea)

^d Yonsei University   (South Korea)

Author keywords

DYSF mutations; Dysferlinopathy; Limb girdle muscular dystrophy type 2B; Miyoshi myopathy

Indexed keywords

CYTIDINE; GUANIDINE;

ADULT; ADULTHOOD; ALLELE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DYSF GENE; DYSFERLINOPATHY; ETHNIC GROUP; FEMALE; GASTROCNEMIUS MUSCLE; GENE CLUSTER; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KOREAN; MALE; MARKER GENE; MUTATIONAL ANALYSIS; MYOSITIS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; REPUBLIC OF KOREA;

EID: 84862802632     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.12.007     Document Type: Article

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