Distal joint hypermobility, Distal muscle weakness, Elbow flexion contracture, Elevated circulating creatine kinase concentration, EMG abnormality, EMG: myopathic abnormalities, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine kinase, Motor delay, Multiple joint contractures, Muscle fiber necrosis, Muscle weakness, Muscular dystrophy, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, obsolete Congenital muscular dystrophy, obsolete Joint laxity, Pes valgus, Progressive proximal muscle weakness, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Recurrent lower respiratory tract infections, Reduced muscle collagen VI, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Wrist hypermobility

decreased skeletal muscle mass, decreased skeletal muscle size, impaired skeletal muscle contractility, increased variability of skeletal muscle fiber size, muscle phenotype, skeletal muscle endomysial fibrosis, skeletal muscle necrosis, skeleton phenotype