Difficulty standing, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Dysarthria, Dysphagia, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Hip flexor weakness, Hyporeflexia, Hyporeflexia of lower limbs, Inability to walk, Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Limited elbow flexion, Limited knee flexion/extension, Loss of ability to walk in first decade, Multiple joint contractures, Muscle fiber cytoplasmatic inclusion bodies, Muscle stiffness, Muscle weakness, Myalgia, Myofibrillar myopathy, Myopathy, Nasal speech, Neck flexor weakness, Pelvic girdle muscle weakness, Peripheral neuropathy, Polyneuropathy, Progressive distal muscle weakness, Progressive proximal muscle weakness, Proximal amyotrophy, Proximal muscle weakness, Reduced maximal inspiratory pressure, Reduced vital capacity, Respiratory insufficiency, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Tremor, Waddling gait