A Mutation in theCASQ1Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates-Reference-Cited by-同舟云学术

A Mutation in theCASQ1Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

Published:2014-09-10 Issue:10 Volume:35 Page:1163-1170
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rossi Daniela¹²,Vezzani Bianca¹,Galli Lucia¹,Paolini Cecilia²³,Toniolo Luana⁴,Pierantozzi Enrico¹,Spinozzi Simone¹,Barone Virginia¹²,Pegoraro Elena⁵,Bello Luca⁵,Cenacchi Giovanna⁶,Vattemi Gaetano⁷,Tomelleri Giuliano⁷,Ricci Giulia⁸,Siciliano Gabriele⁸,Protasi Feliciano²³,Reggiani Carlo²⁴⁹,Sorrentino Vincenzo¹²

Affiliation:

1. Molecular Medicine Section, Department of Molecular and Developmental Medicine; University of Siena and Azienda Ospedaliera Universitaria Senese; Siena 53100 Italy

2. IIM, Interuniversity Institute of Myology

3. Ce.S.I., Center for Research on Ageing & DNICS; Department of Neuroscience, Imaging, and Clinical Sciences, University G. D'Annunzio; Chieti 66013 Italy

4. Department of Biomedical Sciences; University of Padova; Padova 35131 Italy

5. Department of Neurosciences; University of Padova; Padova 35131 Italy

6. Department of Biomedical and Neuromotor Sciences; University of Bologna; Bologna 40138 Italy

7. Department of Neurological and Movement Sciences; University of Verona; Verona 37129 Italy

8. Department of Clinical and Experimental Medicine; University of Pisa; Pisa 56126 Italy

9. CNR Institute of Neuroscience; Padova 35131 Italy

Funder

Fondazione Telethon

Ministero dell Istruzione, dell Universitï¿½ e della Ricerca, Fondo Innovazione in Ricerca

U.S. National Institute of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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