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Muscular weakness and wasting of the lower extremities\u200a had\u200a developed\u200a since\u200a age\u200a 40,\u200a accompanied\u200a by\u200a a limitation of anterior bending of the spine. Elevated serum CK was noticed. Muscle CT revealed atrophy with moderate fatty replacement of muscles in the neck, shoulder and pelvic girdle, and marked replacement in the para\u2010vertebral muscles, posterior compartment of hamstrings and calf muscles. Electromyography showed a typical myogenic pattern, and muscle biopsy disclosed dystrophic changes, compatible with limb\u2010girdle muscular dystrophy 2B. Loss of dysferlin expression was verified by immunohistochemistry, which was confirmed by a mini\u2010multiplex Western blotting system. Gene analyses of the dysferlin gene disclosed compound heterozygotes for frameshift (G3016\u2003+\u20031A) and a missense mutation (G3370T). This study might propose some clues to resolve the combination of musular dystrophies and rigid spine syndrome.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2004.00573.x","type":"journal-article","created":{"date-parts":[[2004,11,26]],"date-time":"2004-11-26T16:46:13Z","timestamp":1101487573000},"page":"341-346","source":"Crossref","is-referenced-by-count":33,"title":["Dysferlinopathy associated with rigid spine syndrome"],"prefix":"10.1111","volume":"24","author":[{"given":"Toshiko","family":"Nagashima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayo","family":"Chuma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Mano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko 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