Central hypoventilation, Clumsiness, Congestive heart failure, Difficulty climbing stairs, Difficulty running, Difficulty walking, Dilated cardiomyopathy, EMG abnormality, EMG: myopathic abnormalities, Easy fatigability, Elevated circulating creatine kinase concentration, Exercise intolerance, Facial diplegia, Facial palsy, Fatigable weakness of bulbar muscles, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Fetal akinesia sequence, Flexion contracture, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized limb muscle atrophy, Gowers sign, High palate, Hypertelorism, Hypertrophic cardiomyopathy, Hyporeflexia, Increased muscle lipid content, Increased variability in muscle fiber diameter, Left ventricular hypertrophy, Limb muscle weakness, Lipoatrophy, Long face, Lower limb amyotrophy, Lower limb muscle weakness, Lumbar hyperlordosis, Micrognathia, Mildly elevated creatine kinase, Mitral regurgitation, Mitral valve prolapse, Motor delay, Muscle stiffness, Myopathy, Narrow chest, Narrow face, Nasal speech, Neck muscle weakness, Nemaline bodies, Neuromuscular dysphagia, Palmoplantar keratoderma, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Polyhydramnios, Poor head control, Ptosis, Reduced systolic function, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Sensorineural hearing impairment, Sinus tachycardia, Slender build, Spinal rigidity, Talipes equinovarus, Thoracic scoliosis, Type 1 muscle fiber predominance, Ventricular septal hypertrophy, Waddling gait, obsolete Toe walking