Apnea, Areflexia, Arthrogryposis multiplex congenita, Axial muscle weakness, Bradykinesia, Breech presentation, Bulbar palsy, Bulbar signs, Cardiomyopathy, Cleft palate, Clumsiness, Congenital contracture, Cystic hygroma, Decreased fetal movement, Depressed nasal ridge, Difficulty walking, Dysphagia, EMG: myopathic abnormalities, EMG: neuropathic changes, Edema, Edema of the dorsum of hands, Elevated circulating creatine kinase concentration, Epicanthus, Exercise intolerance, Exertional dyspnea, Facial diplegia, Facial palsy, Fatigable weakness of bulbar muscles, Fatigable weakness of distal limb muscles, Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Fatty replacement of skeletal muscle, Feeding difficulties, Fetal akinesia sequence, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Genu valgum, Genu varum, Hand clenching, High palate, High, narrow palate, Hip dislocation, Hyperlordosis, Hypertelorism, Hypoplastic heart, Hyporeflexia, Hypospadias, Inability to walk, Increased connective tissue, Increased muscle lipid content, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Intrauterine growth retardation, Joint dislocation, Kyphosis, Large fontanelles, Late-onset distal muscle weakness, Limb muscle weakness, Limb-girdle muscle weakness, Long face, Long philtrum, Low-set ears, Malignant hyperthermia, Micrognathia, Micropenis, Mildly elevated creatine kinase, Mitochondrial depletion, Motor delay, Multiple prenatal fractures, Multiple pterygia, Muscle stiffness, 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, Polyhydramnios, Premature birth, Progressive distal muscle weakness, Progressive proximal muscle weakness, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Severe muscular hypotonia, Short finger, Short neck, Skeletal muscle atrophy, Slender build, Spinal rigidity, Sternocleidomastoid amyotrophy, Talipes equinovarus, Thin ribs, Type 1 muscle fiber predominance, Vertebral fusion, Waddling gait, Weakness of facial musculature, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles

decreased body size, decreased grip strength, decreased locomotor activity, decreased quadriceps weight, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber size, decreased skeletal muscle weight, impaired exercise endurance, impaired skeletal muscle contractility, increased skeletal muscle fiber number, increased susceptibility to injury, increased variability of skeletal muscle fiber size, lethality at weaning, complete penetrance, muscle phenotype, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance