R(WHY)R1
One of these is primarily used in diagnosing an RYR1-Related Disorder: Dysmorphology Exam, Muscle Biopsy, MRI, Genetic Testing.
What is genetic testing?
T/F: LOF mutations are associated with Malignant Hyperthermia Susceptibility (MHS).
What is false?
This muscle biopsy pathway is mainly associated with the AD form of RYR1-related disorders: (A) Central Core Disease, (B) Multiminicore Disease, (C) Centronuclear Myopathy, (D) Congenital Fiber Type Disproportion
What is A, central core disease?
The primary function of the RYR1 protein is to: (A) regulate blood glucose levels, (B) transport oxygen in the blood, (C) control calcium release in skeletal muscle cells, and (D) to synthesize neurotransmitters.
What is C, control calcium release in skeletal muscles?
T/F: Someone with an RYR1-Related Disorder may not know they have the condition until it is triggered by an external event (exercise, heat, drug interactions).
What is true?
Where Leni received her GC degree.
What is Northwestern?