Centrally nucleated skeletal muscle fibers, Cerebellar atrophy, Cryptorchidism, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased fetal movement, Delayed gross motor development, Developmental regression, Dilated cardiomyopathy, Distal arthrogryposis, Dysarthria, Dysmetria, Dysmetric saccades, EMG: myopathic abnormalities, EMG: neuropathic changes, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Fasciculations, Flexion contracture, Gait ataxia, Gait disturbance, Generalized hypotonia, Gowers sign, Hyperlordosis, Hypermetropia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hyporeflexia, Hypotonia, Ichthyosis, Impaired smooth pursuit, Increased LDL cholesterol concentration, Intellectual disability, Joint contracture of the hand, Joint stiffness, Kyphosis, Limb ataxia, Limb-girdle muscular dystrophy, Lipodystrophy, Mildly elevated creatine kinase, Motor delay, Muscular dystrophy, Myopathy, Myotonia, Neck muscle weakness, Nystagmus, Obesity, Pectus excavatum, Peripheral axonal neuropathy, Pes cavus, Progressive cerebellar ataxia, Progressive gait ataxia, Proximal amyotrophy, 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 due to muscle weakness, Restrictive ventilatory defect, Rimmed vacuoles, Scapular winging, Scoliosis, Small for gestational age, Spastic dysarthria, Spasticity, Spinal rigidity, Sprengel anomaly, Strabismus, Sudden cardiac death, Supraventricular arrhythmia, Talipes equinovarus, Type 1 muscle fiber atrophy, Upper motor neuron dysfunction, Ventricular escape rhythm, Ventricular septal hypertrophy, Vocal cord paralysis, Waddling gait, Weakness of facial musculature, obsolete Toe walking

postnatal lethality, incomplete penetrance, prolonged QRS complex duration, small lung, weakness