A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

European Journal of Neurology

Volumn 14, Issue 11, 2007, Pages 1288-1291

  Hattori, H ^a   Nagata, E ^a   Oya, Y ^b   Takahashi, T ^c   Aoki, M ^c   Ito, D ^a   Suzuki, N ^a  

^a KEIO UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Creatine kinase; Dantrolene; Dysferlin; Miyoshi myopathy; Muscular dystrophy

Indexed keywords

CREATINE KINASE; DANTROLENE; DYSFERLIN;

ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DNA SPLICING; DRUG EFFICACY; DRUG WITHDRAWAL; EXON; FEMALE; GENE MUTATION; GENOME ANALYSIS; HETEROZYGOSITY; HUMAN; LIVER DISEASE; MALE; MIYOSHI MYOPATHY; MUTATION RATE; PRIORITY JOURNAL; SIBLING; TRANSLATION INITIATION;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; DANTROLENE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; SIBLINGS;

EID: 35448947534     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01958.x     Document Type: Article

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