Article info
Genotype-phenotype correlations
Original article
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
- Correspondence to Dr Marina Mora, Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Neurological Institute ‘C Besta’, Via Temolo 4, Milano 20126, Italy; mmora{at}istituto-besta.it and Dr Claudia Di Blasi, Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS, Neurological Institute C Besta, Milano, Italy; cladibl@gmail.com
Citation
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Publication history
- Received November 6, 2014
- Revised June 13, 2015
- Accepted June 16, 2015
- First published July 1, 2015.
Online issue publication
August 21, 2017
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