Abstract
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3′-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.
| Original language | English |
|---|---|
| Pages (from-to) | 1288-1291 |
| Number of pages | 4 |
| Journal | European Journal of Neurology |
| Volume | 14 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - 2007 Nov |
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Keywords
- Creatine kinase
- Dantrolene
- Dysferlin
- Miyoshi myopathy
- Muscular dystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. / Hattori, H.; Nagata, E.; Oya, Y.; Takahashi, T.; Aoki, M.; Ito, Daisuke; Suzuki, N.
In: European Journal of Neurology, Vol. 14, No. 11, 11.2007, p. 1288-1291.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene
AU - Hattori, H.
AU - Nagata, E.
AU - Oya, Y.
AU - Takahashi, T.
AU - Aoki, M.
AU - Ito, Daisuke
AU - Suzuki, N.
PY - 2007/11
Y1 - 2007/11
N2 - Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3′-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.
AB - Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3′-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.
KW - Creatine kinase
KW - Dantrolene
KW - Dysferlin
KW - Miyoshi myopathy
KW - Muscular dystrophy
UR - http://www.scopus.com/inward/record.url?scp=35448947534&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=35448947534&partnerID=8YFLogxK
U2 - 10.1111/j.1468-1331.2007.01958.x
DO - 10.1111/j.1468-1331.2007.01958.x
M3 - Article
C2 - 17868276
AN - SCOPUS:35448947534
VL - 14
SP - 1288
EP - 1291
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 11
ER -