Funding for this research was provided by:
Ministère de l'Enseignement Supérieur et de la Recherche (PHRC INNOVARC DGOS 12-027-0309)
Fondation Maladies Rares
Received: 13 August 2017
Accepted: 19 February 2018
First Online: 6 March 2018
Ethics approval and consent to participate
: This project has been approved by the ethical committee (CPP LYON SUD EST – 2 – REF IRB 00009118 – September 21, 2016), according to the Laws Nos. 94–548 of 1 July 1994, Nos. 94–653 and 94–654 of 29 July 1994, taking into account the amendments further introduced by the laws n ° 2004–800 of 6 August 2004 and n ° 2011–814 of 7 July 2011, both relating to bioethics. This approval included an informed consent form and a detailed information sheet for patients. According to the article R. 1131–4 of the French Public Health Code, for the participants who are under 18 yr., the consent has been given by both mother and father during clinical and genetic counseling. In the three cases, there were the natural parents which have the parental authority. In addition, the consent of the minor is systematically sought if he is able to express his will and participate in the decision. The clinical and genetic studies were registered by theExternalRef removed- Protocol Registration and Results System (PRS) receipt under the reference NCT02829853.
: The SARCFAM protocol was presented to the ethical committee (CPP LYON SUD EST – 2 – REF IRB 00009118) dated September 21, 2016 and includes consent for genetic studies and an information document on the objectives of genetic analysis and the scientific SARCFAM project. This document is an informed consent for the publication of scientific and clinical data subject to a complete anonymity of the information. Our study does not present any photographic data. This informed consent is valid for adult patients and for children (< 18 yr) after signature of both legal parents.
: The authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.