Proceedings of the Japan Academy, Series B
Online ISSN : 1349-2896
Print ISSN : 0386-2208
ISSN-L : 0386-2208
Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
Tsuyoshi MATSUMURAMasashi AOKIAtsushi NAGANOYukiko K. HAYASHIChie ASADAMegumu OGAWAGaku YAMANAKAKanako GOTOMasanori NAKAGAWAHisayoshi OKAKo SAHASHINobuo KOUHARAYuko SAITORobert H. BROWNIkuya NONAKAKiichi ARAHATA
Author information
JOURNALS FREE ACCESS

1999 Volume 75 Issue 7 Pages 207-212

Details
Abstract

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no mutational hot spot. Expression of dysferlin at the plasma membrane of skeletal muscle was deficient in all the patients studied. In two families, we found two distinct clinical phenotypes (distal and proximal dominancies) within a family. This is the first report of DYSF mutations and dysferlin deficiency in Japanese patients with MM. Our findings suggest, (1) the specific deficiency of dysferlin at the plasma membrane of skeletal muscle in MM, (2) the ethnic difference in DYSF mutations and (3) the presence of possible genetic or environmental modification factors which influence the clinical variability of MM.

Information related to the author
© The Japan Academy
Previous article Next article
feedback
Top