Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy
Yonsei Medical Journal
;
: 927-930, 2004.
Article
in English
| WPRIM
| ID: wpr-203758
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Immunohistochemistry
/
Caveolins
/
Distal Myopathies
/
Membrane Proteins
/
Muscle Proteins
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Yonsei Medical Journal
Year:
2004
Type:
Article
Similar
MEDLINE
...
LILACS
LIS