Article
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations.
Cell death & disease - 22 May 2018
Sui Tingting, Xu Li, Lau Yeh Siang, Liu Di, Liu Tingjun, Gao Yandi, Lai Liangxue, Han Renzhi, Li Zhanjun
Abstract excerpt
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present...
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