Yonsei Med J.  2004 Oct;45(5):927-930. 10.3349/ymj.2004.45.5.927.

Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

• Oh SH
• Kim TS
• Choi YC

• KMID: 1103918
• DOI: http://doi.org/10.3349/ymj.2004.45.5.927

Abstract

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.

Keyword

Miyoshi myopathy (MM) ; dysferlin; DYSF gene

MeSH Terms

Adult
Caveolins/analysis
Distal Myopathies/*genetics
Humans
Immunohistochemistry
Male
Membrane Proteins/chemistry/*genetics
Muscle Proteins/chemistry/*genetics
*Mutation
Research Support, Non-U.S. Gov't