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Genomics / Emerging technologies / Translational Genomics Research Institute / Personalized medicine / Myopathy / Muscle / Neuromuscular disease / Weakness / RYR1 / Anatomy / Biology / Health


Study finds likely genetic source of muscle weakness in six previously undiagnosed children
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Document Date: 2015-05-05 13:32:49

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Facility

Translational Genomics Research Institute / University of British Columbia / Barrow Neurological Institute / Phoenix Children's Hospital / /

IndustryTerm

genetic technology / /

MedicalCondition

patient's disease / children's disease / children's muscle weakness / ophthalmoplegia / severe muscle weakness / Neuromuscular Disease / EmeryDreifuss muscular dystrophy / muscle disease / myopathy / severe congenital myopathy / contractures / ophthalmoplegia resulting / muscle weakness / myopathies / calcium channel myopathy / /

Organization

TGen's Integrated Cancer Genomics Division / Phoenix Children's Hospital / Barrow Neurological Institute / Translational Genomics Research Institute / University of British Columbia / Barrow Neurological Institute at Phoenix Children's Hospital / /

Person

Jesse Hunter / Saunder Bernes / Judith Hall / Lisa BaumbachReardon / /

Position

senior author / lead author / neurologist / Associate Professor / /

ProvinceOrState

British Columbia / /

Technology

Genomics / MRI / /

URL

http /

SocialTag