A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

Brain and Development

Volumn 29, Issue 4, 2007, Pages 234-238

  Lin, Yi Ching ^a   Murakami, Terumi ^b   Hayashi, Yukiko K ^b   Nishino, Ichizo ^b   Nonaka, Ikuya ^b   Yuo, Chung Yee ^c   Jong, Yuh Jyh ^a,d  

^a KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Dystroglycan; FKRP gene; Limb girdle muscular dystrophy 2I

Indexed keywords

ALPHA DYSTROGLYCAN; CREATINE KINASE; STEROID;

ADULT; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; ECHOCARDIOGRAPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; FKRP GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEART EJECTION FRACTION; HUMAN; IMMUNOREACTIVITY; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOSITIS; SHOULDER GIRDLE; TAIWAN;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PROTEINS; TAIWAN;

EID: 33847144062     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.09.006     Document Type: Article

References (10)

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