Radiological findings in siblings with dysferlin mutation with diverse phenotype
Dysferlinopathy is an autosomal recessive muscular dystrophy caused by mutations in the dysferlin gene, which encodes dysferlin [1]. The dysferlin gene is located on chromosome 2p13 and encompasses 55 exons spanning over 150 kb of genomic DNA [1,2].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Ayako Shioya, Hiroshi Takuma, Toshiaki Takahashi, Akiko Ishii, Masashi Aoki, Akira Tamaoka Tags: Letter to the Editor Source Type: research