Acute kidney injury, Acute rhabdomyolysis, Akinesia, Amyoplasia, Arachnodactyly, Areflexia, Axial muscle weakness, Bifid uvula, Bulbar signs, Cardiomyocyte mitochondrial proliferation, Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Cleft palate, Congenital hip dislocation, Cryptorchidism, Cystic hygroma, Decreased fetal movement, Delayed gross motor development, Delayed speech and language development, Depressed nasal ridge, Difficulty climbing stairs, Difficulty running, Distal upper limb muscle weakness, Dolichocephaly, Dysarthria, Dysphonia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Edema, Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise, Epicanthus, Exercise-induced myalgia, Exercise-induced rhabdomyolysis, External ophthalmoplegia, Facial diplegia, Facial palsy, Failure to thrive, Fasciculations, Fatigable weakness, Feeding difficulties, Feeding difficulties in infancy, Fetal akinesia sequence, Fever, Flexion contracture, Frog-leg posture, Gait disturbance, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, Gowers sign, High palate, High-output congestive heart failure, Hip contracture, Hydrops fetalis, Hypercapnia, Hyperkalemia, Hyperlordosis, Hyperphosphatemia, Hypertelorism, Hypoplastic heart, Hyporeflexia, Hyporeflexia of upper limbs, Hypotension, Hypotonia, Increased connective tissue, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Infantile axial hypotonia, Intellectual disability, mild, Intermittent painful muscle spasms, Internally nucleated skeletal muscle fibers, Intrauterine growth retardation, Intrinsic hand muscle atrophy, Joint dislocation, Knee dislocation, Kyphoscoliosis, Left ventricular hypertrophy, Lethargy, Long face, Low-set ears, Malignant hyperthermia, Metabolic acidosis, Micrognathia, Micropenis, Minicore myopathy, Mitral valve prolapse, Mixed respiratory and metabolic acidosis, Motor delay, Multiple joint contractures, Multiple pterygia, Muscle fiber hypertrophy, Muscle stiffness, Muscle weakness, Muscular dystrophy, Myoglobinuria, Myopathic facies, Myopathy, Narrow face, Narrow forehead, Narrow mouth, Necrotizing myopathy, Nemaline bodies, Neonatal hypotonia, Neonatal respiratory distress, Ophthalmoparesis, Ophthalmoplegia, Pelvic girdle muscle weakness, Pes cavus, Pes planus, Pneumonia, Polyhydramnios, Premature ventricular contraction, Progressive muscle weakness, Prominent forehead, Protruding ear, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Rectus femoris muscle atrophy, Recurrent patellar dislocation, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Retrognathia, Rhabdomyolysis, Rigidity, Scapular winging, Scoliosis, Severe postnatal growth retardation, Short finger, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Small scrotum, Sternocleidomastoid amyotrophy, Supraventricular tachycardia, Tachycardia, Tachypnea, Talipes equinovarus, Tented upper lip vermilion, Thickened skin, Thin ribs, Tibialis atrophy, Type 1 and type 2 muscle fiber minicore regions, Type 1 muscle fiber atrophy, Type 1 muscle fiber predominance, Ventricular tachycardia, Vertebral fusion, Waddling gait, Weak cry, Wide nasal bridge, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal muscle development, abnormal muscle electrophysiology, abnormal muscle fiber morphology, abnormal physiological response to xenobiotic, abnormal potassium ion homeostasis, abnormal sarcomere morphology, abnormal sarcoplasmic reticulum morphology, abnormal skeletal muscle morphology, abnormal skin condition, abnormal soleus morphology, abnormal spine curvature, abnormal spleen weight, abnormal thoracic cage shape, acidemia, decreased birth body size, decreased birth weight, decreased body length, decreased grip strength, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber number, decreased skeletal muscle fiber size, decreased skeletal muscle mass, delayed bone ossification, delayed heart development, domed cranium, enhanced behavioral response to xenobiotic, fetal growth retardation, hindlimb paralysis, impaired muscle contractility, impaired skeletal muscle contractility, increased brown adipose tissue amount, increased core body temperature, increased pulmonary respiratory rate, increased respiratory quotient, increased sensitivity to xenobiotic induced morbidity/mortality, increased spleen weight, increased susceptibility to malignant hyperthermia, increased variability of skeletal muscle fiber size, lethality throughout fetal growth and development, complete penetrance, muscle phenotype, muscle tetany, neonatal lethality, complete penetrance, no spontaneous movement, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, skeletal muscle degeneration, skin edema, underdeveloped hair follicles, unresponsive to tactile stimuli