ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation-Reference-Cited by-同舟云学术

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation

Published:2015-07-14 Issue:18 Volume:593 Page:4181-4199
ISSN:0022-3751
Container-title:The Journal of Physiology
language:en
Short-container-title:J Physiol

Author:

Imbrici P.¹,Maggi L.²,Mangiatordi G. F.¹,Dinardo M. M.¹,Altamura C.¹,Brugnoni R.²,Alberga D.³,Pinter G. Lauria⁴,Ricci G.⁵,Siciliano G.⁵,Micheli R.⁶,Annicchiarico G.⁷,Lattanzi G.³,Nicolotti O.¹,Morandi L.²,Bernasconi P.²,Desaphy J.-F.¹,Mantegazza R.²,Camerino D. Conte¹

Affiliation:

1. Department of Pharmacy - Drug Sciences; University of Bari; Bari Italy

2. Neuroimmunology and Neuromuscular Diseases Unit; IRCCS Fondazione Istituto Neurologico ‘Carlo Besta’; Milano Italy

3. Department of Physics ‘M. Merlin’; INFN and TIRES; University of Bari; Bari Italy

4. Neuroalgology and Headache Unit; IRCCS Fondazione Istituto Neurologico ‘Carlo Besta’; Milano Italy

5. Department of Clinical and Experimental Medicine; Section of Neurology; University of Pisa; Pisa Italy

6. Unit of Child Neurology and Psychiatry; Spedali Civili; Brescia Italy

7. Regional Coordination for Rare Diseases; A. Re. S. Puglia; Bari Italy

Funder

Ministero della Salute

Fondazione Telethon

Publisher

Wiley

Subject

Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1113/JP270358/fullpdf

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