Calf muscle hypertrophy, Cardiomyopathy, Central hypoventilation, Centrally nucleated skeletal muscle fibers, Clumsiness, Congenital hip dislocation, Cryptorchidism, Decreased fetal movement, Difficulty climbing stairs, Difficulty running, Difficulty walking, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Easy fatigability, Elbow flexion contracture, Exercise intolerance, Facial diplegia, Facial palsy, Failure to thrive, Fatigable weakness of bulbar muscles, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Fetal akinesia sequence, Flexion contracture, Flexion contracture of finger, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Gowers sign, High palate, High, narrow palate, Hip contracture, Hyperlordosis, Hypertelorism, Hyporeflexia, Hypotonia, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, Knee flexion contracture, Kyphoscoliosis, Limb joint contracture, Limb muscle weakness, Long face, Long philtrum, Low-set ears, Lower limb amyotrophy, Lower limb muscle weakness, Lumbar hyperlordosis, Micrognathia, Mildly elevated creatine kinase, Mitral valve prolapse, Motor delay, Multiple prenatal fractures, Muscle stiffness, Myopathic facies, Myopathy, Narrow chest, Narrow face, Nasal speech, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Neuromuscular dysphagia, Ophthalmoplegia, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Polyhydramnios, Poor head control, Poor suck, Premature birth, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Reduced forced vital capacity, Reduced systolic function, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Severe muscular hypotonia, Short stature, Shoulder girdle muscle atrophy, Sinus tachycardia, Skeletal muscle atrophy, Slender build, Spinal rigidity, Talipes equinovarus, Tented upper lip vermilion, Thoracic scoliosis, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber atrophy, Type 1 muscle fiber predominance, Waddling gait, Weak cry, obsolete Joint laxity, obsolete Toe walking