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The Caveolin-3 P104L mutation of LGMD-1C leads to disordere..:

Deng, Yu Feng ; Huang, Yi Yuan ; Lu, Wen Sheng...
Biochemical and Biophysical Research Communications.  486 (2017)  2 - p. 218-223 , 2017
Link: https://doi.org/10.1016/j.bbrc.2017.02.072