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

• Park HJ
• Lee JH
• Shin HY
• Kim SM
• Lee JH
• Choi YC

• KMID: 2364931
• DOI: http://doi.org/10.3988/jcn.2016.12.1.121

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

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