Funding for this research was provided by:
National Institute of Diabetes and Digestive and Kidney Diseases (R01 DK088114, UL1 TR000433)
Received: 10 November 2017
Accepted: 20 March 2018
First Online: 27 March 2018
Ethics approval and consent to participate
: Informed assent and consent were obtained from the patient and her mother for genetic testing and fibroblast collection, as well as from the control patient with Duchenne muscular dystrophy under approval from the Institutional Review Board of the University of Michigan Medical School.
: Consent for publication has been obtained from the patient and her mother, as well as the control subject.Availability of data and materials: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.
: EAO received grant support from and served as an advisor to Amylin Pharmaceuticals LLC, Bristol-Myers-Squibb, and AstraZeneca. She currently receives grant support and is an advisor to Aegerion Pharmaceuticals, Akcea Therapeutics and Ionis Pharmaceuticals. Other authors have no financial relationships relevant to this article to disclose.
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