Axial muscle weakness, Bradykinesia, Breech presentation, Bulbar palsy, Bulbar signs, Calf muscle hypertrophy, Cardiac conduction abnormality, Cardiomyopathy, Centrally nucleated skeletal muscle fibers, Clumsiness, Congenital hip dislocation, Cryptorchidism, Decreased fetal movement, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal muscle weakness, Dysphagia, EMG: myopathic abnormalities, EMG: neuropathic changes, Edema of the dorsum of hands, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Exercise intolerance, Facial diplegia, Facial palsy, Failure to thrive, Fatigable weakness of bulbar muscles, Fatigable weakness of distal limb muscles, Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Feeding difficulties in infancy, Fetal akinesia sequence, Flexion contracture, Flexion contracture of finger, Foot dorsiflexor weakness, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Genu valgum, Genu varum, Global developmental delay, Gowers sign, Hamstring contractures, Hand muscle atrophy, Handgrip myotonia, High palate, High, narrow palate, Hip contracture, Hip dislocation, Hyperlordosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Hypotonia, Increased connective tissue, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Large fontanelles, Late-onset distal muscle weakness, Limb joint contracture, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Long face, Long philtrum, Low-set ears, Lumbar hyperlordosis, Mask-like facies, Micrognathia, Micropenis, Mildly elevated creatine kinase, Motor delay, Multiple prenatal fractures, Muscle fiber necrosis, Muscle fiber splitting, Muscle stiffness, Myofibrillar myopathy, Myopathic facies, Myopathy, Narrow chest, Narrow face, Neck flexor weakness, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Neuromuscular dysphagia, Nocturnal hypoventilation, Ophthalmoplegia, Pectus excavatum, Pes cavus, Pneumonia, Polyhydramnios, Poor head control, Poor suck, Premature birth, Progressive muscle weakness, 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, Retrognathia, Rigidity, Rimmed vacuoles, Scapular winging, Scoliosis, Severe muscular hypotonia, Short neck, Short stature, Skeletal muscle atrophy, Slender build, Spasticity, Spinal rigidity, Talipes equinovarus, Tented upper lip vermilion, Thin ribs, Torticollis, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber atrophy, Type 1 muscle fiber predominance, Waddling gait, Weak cry, Wrist drop, obsolete Joint laxity

decreased skeletal muscle fiber diameter, decreased skeletal muscle glycogen level, excessive tearing, facial muscle atrophy, postnatal lethality, complete penetrance, premature death