Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A

Muscle and Nerve

Volumn 46, Issue 5, 2012, Pages 723-729

  Luo, Su Shan ^a   Xi, Jian Ying ^a   Zhu, Wen Hua ^a   Zhao, Chong Bo ^a   Lu, Jia Hong ^a   Lin, Jie ^a   Wang, Yin ^a   Lu, Jun ^a   Qiao, Kai ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

CAPN3; Genotype; LGMD2A; Novel mutation; Phenotype

Indexed keywords

CALPAIN; CREATINE KINASE;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DISTAL MYOPATHY; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; WESTERN BLOTTING;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; CALPAIN; FEMALE; GENE DELETION; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MUTATION, MISSENSE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84867374222     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23381     Document Type: Article

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