Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.
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.
Oh
Seung Hun
SH
Department of Neurology, Yongdong Severance Hospital, 146-92, Dogok-dong, Kangnam-gu, Seoul 135-270, Korea.
Kim
Tai Seung
TS
Choi
Young Chul
YC
D000328:Adult; D051244:Caveolin 3; D022461:Caveolins / Q000032:analysis; D049310:Distal Myopathies / Q000235:genetics*; D000073939:Dysferlin; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation
D051244:Caveolin 3; D022461:Caveolins; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins