Review Question - QID 6125

The girl shows clinical features of hereditary motor sensory neuropathy type 1, Charcot-Marie-Tooth disease. The most common type of this autosomal-dominant disease is due to an underlying defect in the gene coding for peripheral myelin protein-22 on chromosome 17. Many other less common mutations have been identified in this family of neuropathies. Dystrophin is a protein that is abnormal in Duchenne’s muscular dystrophy, which affects males and is diagnosed earlier. Type I collagen is defective in osteogenesis imperfecta. Alpha-L-iduronidase is defective in mucopolysaccharidosis type I, Hurler’s syndrome. Defective cartilage oligomeric matrix protein is associated with some forms of multiple epiphyseal dysplasia.