Bifid uvula, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Clumsiness, Congestive heart failure, Delayed gross motor development, Delayed speech and language development, Diaphragmatic weakness, Difficulty climbing stairs, Difficulty running, Difficulty walking, Dilated cardiomyopathy, Distal muscle weakness, Distal upper limb muscle weakness, Dysarthria, Dysphonia, Dyspnea, EMG abnormality, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Facial diplegia, Facial palsy, Failure to thrive, Falls, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Gait disturbance, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, Gowers sign, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hypertrophic cardiomyopathy, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, mild, Intermittent episodes of respiratory insufficiency due to muscle weakness, Internally nucleated skeletal muscle fibers, Left ventricular hypertrophy, Limited hip movement, Limited neck flexion, Lipoatrophy, Long face, Mandibular prognathia, Microretrognathia, Mildly elevated creatine kinase, Mitochondrial depletion, Mitral valve prolapse, Motor delay, Multiple joint contractures, Muscle fiber atrophy, Muscle fiber hypertrophy, Muscle fiber splitting, Muscular dystrophy, Myofibrillar myopathy, Myopathy, Narrow mouth, Neck flexor weakness, Necrotizing myopathy, Nocturnal hypoventilation, Ophthalmoparesis, Ophthalmoplegia, Orthopnea, Palmoplantar keratoderma, Pelvic girdle muscle weakness, Peroneal muscle atrophy, Pes cavus, Pes planus, Poor head control, Premature atrial contractions, Progressive muscle weakness, Protruding ear, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Ptosis, Quadriceps muscle weakness, Reduced ejection fraction, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Retrognathia, Right ventricular failure, Right ventricular hypertrophy, Rimmed vacuoles, Scapular winging, Scoliosis, Sensorineural hearing impairment, Short stature, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Talipes equinovarus, Tibialis muscle weakness, Type 1 muscle fiber predominance, Ventricular tachycardia, Waddling gait, Weakness of facial musculature, obsolete Congenital muscular dystrophy, obsolete Restrictive deficit on pulmonary function testing

abnormal hypaxial muscle morphology, abnormal muscle contractility, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal myocardium layer morphology, abnormal quadriceps morphology, abnormal response/metabolism to endogenous compounds, abnormal sarcomere morphology, abnormal skeletal muscle morphology, abnormal soleus morphology, abnormal somite development, abnormal tibialis anterior morphology, abnormal vitelline vascular remodeling, absent heartbeat, absent organized vascular network, cardiac hypertrophy, cardiac interstitial fibrosis, cardiovascular system phenotype, cellular necrosis, decreased body size, decreased cardiac muscle contractility, decreased diastolic filling velocity, decreased embryo size, decreased heart weight, decreased soleus weight, decreased ventricle muscle contractility, dilated heart left ventricle, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, enlarged myocardial fiber, hypoxia, impaired exercise endurance, impaired skeletal muscle contractility, increased apoptosis, increased embryonic tissue cell apoptosis, increased heart left atrium weight, increased heart left ventricle size, increased left ventricle diastolic pressure, increased left ventricle systolic pressure, increased left ventricle weight, increased variability of skeletal muscle fiber size, lethality throughout fetal growth and development, complete penetrance, muscle degeneration, muscle phenotype, no abnormal phenotype detected, pericardial edema, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, skeletal muscle fiber atrophy, skeletal muscle fiber necrosis, thick ventricular wall, thin myocardium, trabecula carnea hypoplasia, ventricular hypoplasia