EMG: myopathic abnormalities, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Gait disturbance, Hyperlordosis, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hyporeflexia, Hypotonia, Ichthyosis, Increased LDL cholesterol concentration, Increased variability in muscle fiber diameter, Joint stiffness, Kyphosis, Limb-girdle muscular dystrophy, Lipodystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Myopathy, Myotonia, Obesity, Pectus excavatum, Proximal lower limb amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Sprengel anomaly, Steppage gait, Sudden cardiac death, Supraventricular arrhythmia, Type 1 muscle fiber atrophy, Ventricular escape rhythm, Vocal cord paralysis, Waddling gait, obsolete Toe walking