1. Medical Genetics BranchNational Human Genome Research Institute, National Institutes of Health10 Center Drive, Bld. 10, Room 10C103 Bethesda Maryland20892 USA
2. Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational Sciences, National Institutes of HealthBethesda Maryland USA
3. Department of Neuromuscular ResearchNational Institute of Neuroscience, National Center of Neurology and PsychiatryTokyo Japan
4. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of HealthBethesda Maryland USA