Arrhythmia, Asthma, Blepharospasm, Bowel incontinence, Cerebral palsy, Chest pain, Cold paresis, Cold-sensitive myotonia, Congestive heart failure, Cyanosis, Decreased miniature endplate potentials, Decreased size of nerve terminals, Delayed gross motor development, Diplopia, Drowsiness, Dysesthesia, Dysphagia, Dyspnea, EMG abnormality, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Elevated circulating creatine kinase concentration, Epicanthus, Episodic flaccid weakness, Episodic hypokalemia, Exercise-induced muscle fatigue, Exertional dyspnea, External ophthalmoplegia, Facial muscle hypertrophy, Facial palsy, Fasciculations, Fatigable weakness, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Gait disturbance, Generalized muscle hypertrophy, Handgrip myotonia, High palate, Hip flexor weakness, Hyperkalemia, Hyperlordosis, Hypokalemia, Hyponatremia, Hypothyroidism, Increased intramyocellular lipid droplets, Inspiratory stridor, Intellectual disability, Laryngospasm, Late-onset proximal muscle weakness, Limitation of joint mobility, Malignant hyperthermia, Mildly elevated creatine kinase, Motor delay, Muscle spasm, Muscle stiffness, Muscle weakness, Muscular edema, Myalgia, Myopathy, Myotonia, Myotonia of the face, Myotonia of the jaw, Myotonia of the upper limb, Neck flexor weakness, Neonatal hypotonia, Neonatal inspiratory stridor, Ophthalmoparesis, Ophthalmoplegia, Orthopnea, Paradoxical myotonia, Paralysis, Paresthesia, Percussion myotonia, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis, Postprandial hyperglycemia, Ptosis, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory paralysis, Restrictive ventilatory defect, Scoliosis, Short stature, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Stridor, Thoracic kyphoscoliosis, Triceps weakness, Type 1 muscle fiber predominance, Upper limb muscle weakness, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles

improved glucose tolerance, increased energy expenditure, increased muscle relaxation, increased skeletal muscle fiber size, increased variability of skeletal muscle fiber size, limb grasping, muscle phenotype, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, slow postnatal weight gain