Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy.

Musculoskeletal Causes of Anterior Chest Wall Pain

OBJECTIVE: To investigate the musculoskeletal causes of anterior chest pain and know the prevalencies of the diseases. METHOD: During 4-year periods (1997-2001), 37 patients with anterior chest wall pain was analyzed with regard to the causes of pain and the frequencies of the diseases. RESULTS: 17 patients (45.9%) had systemic diseases and 20 patients (54.1%) had focal joint problems. Systemic disease included the undifferentiated spondyloarthropathy (18.9%), ankylosing spondylitis (13.5%), psoriatic arthritis (2.7%), SAPHO (Synovitis, Acne, Psoriasis, Hyperostosis, Osteitis) syndrome (8.1%), and rheumatoid arthritis (2.7%). Focal joint diseases included costochondritis (10.8%), sterno clavicular inflammatory arthropahty (5.4%), sternoclavicular hyperostosis (2.7%) and infective arthritis (2.7%). Other focal joint problems were pain in sternoclavicular joint with the tenderness and swelling (2.7%), pain in costochondral joint (13.6%), sternoclavicular joint (5.4%), xyphoid process (2.7%) with only focal tenderness. 3 (8.1%) patients had pain in chest wall which had no focal tenderness and swellings on the joint. CONCLUSION: Diverse systemic diseases were identified as causes of the anterior chest wall pain. So physiatrist keep in mind this result and make use of them in diagnostic approaching of the anterior chest pain due to chest wall skeletal involvemen.