EMG: myopathic abnormalities, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Facial palsy, Failure to thrive, Fatigable weakness of bulbar muscles, Fatty replacement of skeletal muscle, Feeding difficulties, Flexion contracture of finger, Generalized muscle weakness, High palate, Hip contracture, Hyperlordosis, Hypotonia, Increased variability in muscle fiber diameter, Infantile muscular hypotonia, Intellectual disability, Knee flexion contracture, Kyphoscoliosis, Limb joint contracture, Long face, Lumbar hyperlordosis, Micrognathia, Mildly elevated creatine kinase, Motor delay, Muscle weakness, Myopathy, Narrow face, Neonatal hypotonia, Ophthalmoplegia, Pectus excavatum, Polyhydramnios, Poor suck, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Reduced forced vital capacity, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Short stature, Skeletal muscle atrophy, Talipes equinovarus, Tented upper lip vermilion, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber atrophy, Waddling gait, Weak cry, obsolete Congenital muscular dystrophy, obsolete Joint laxity

muscle degeneration, premature death, prenatal lethality, incomplete penetrance, skeletal muscle fiber atrophy, skeletal muscle necrosis, vascular smooth muscle hyperplasia, vascular smooth muscle hypertrophy