A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2018; you can also visit the original URL.
The file type is application/pdf
.
Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension
2010
Internal medicine (Tokyo. 1992)
Objective Mutations in the dysferlin gene cause limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM), which are collectively named dysferlinopathy. Dysferlinopathy is the most frequent type of LGMD in the Japanese population. Molecular genetic analysis is essential for the diagnosis of dysferlinopathy because of its variable immunohistochemical patterns of biopsied muscles, including patterns similar to normal controls. The analysis of the entire dysferlin gene however, is
doi:10.2169/internalmedicine.49.3771
pmid:21173544
fatcat:54mf6jnfkzhbhp7rqyan23juq4