J Clin Neurol.  2016 Jan;12(1):121-122. 10.3988/jcn.2016.12.1.121.

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy

Affiliations
  • 1Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
  • 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
  • 3Department of Oral Biology, Yonsei University College of Dentistry, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Humans
Muscular Dystrophies, Limb-Girdle*

Figure

  • Fig. 1 Pedigree, sequencing chromatograms, and conservation profile of the patient. A: Pedigree of a Korean patient with compound heterozygous FKRP mutations. The filled symbol indicates the affected member; open symbols indicate unaffected members. B: Sequencing chromatograms of FKRP mutations c.857G>C and c.1170_1171delGC. C: Conservation analysis result of the c.857G>C mutation site. FKRP: fukutin-related protein.


Reference

1. Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord. 2011; 21:41–46.
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2. Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord. 2005; 15:342–348.
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3. Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, et al. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord. 2013; 23:675–681.
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4. Nigro V, Piluso G. Next generation sequencing (NGS) strategies for the genetic testing of myopathies. Acta Myol. 2012; 31:196–200.
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