SARCOGLYCAN GENE MUTATIONS, CLINICAL FEATURES AND PATHOLOGY OF AUTOPSIED HEART IN PATIENTS WITH MALIGNANT LIMB-GIRDLE MUSCULAR DYSTROPHY (MIYOSHI)

• Published in: Japanese Journal of National Medical Services Vol. 54; no. 9; pp. 419 - 423
• Main Authors: KIMURA, Chiyomi, UEDATOSHIO, Yuriko, ADACHI, Katsuhito, AKAIKE, Masashi, KUNISHIGE, Makoto, UMAKI, Yoshifmi, INUI, Toshio, SAITO, Miho, KAWAI, Hisaomi
• Format: Journal Article
• Language: Japanese
• Published: Japanese Society of National Medical Services 2000; 一般社団法人 国立医療学会
• Subjects: cardiac findings; malignant limb-girdle muscular dystrophy; mutations; sarcoglycanopathy; サルコグリカノパチー; 心所見; 悪性肢帯型筋ジストロフィー; 遺伝子異常
• ISSN: 0021-1699; 1884-8729
• DOI: 10.11261/iryo1946.54.419

We reported three patients who had been diagnosed as malignant limb-girdle muscular dystrophy. They had α-or γ-sarcoglycan gene mutations. Patient 1 was a 56-year-old Japanese female whose parents were first cousins. At 5 years of age she had difficulty in running and often fell. She was unable to walk by herself at 13 years of age. Patient 2 was a 31-year-old female and a niece of patient 1. The clinical course of patient 2 was similar to that of patient 1. Patient 3 was a 13-year-old Japanese girl, and consanguinity of her parents was not confirmed. At 6 years of age she had difficulty in running, she climbed up herself at 10 years of age. Intelligence of these 3 patients was normal. Thier muscle atrophy was seen predominantly in the proximal regions of the extremities, but thier calves appeared moderatly hypertrophic. The histology of thier biopsied muscles showed dystrophic changes, but dystrophin was clearly detected, and α-, β-, or γ-sarcoglycan were not detected immunohistochemically in the skeletal muscle fibers. The echocardiogram showed normal findings. In the autopsied heart of patient 1 with α-sarcoglycanopathy, white regions indicating fibrosis were seen macroscopically at the posteroinf erior wall of left ventricle, and α-sarcoglycan was deficient immunohistochemically in the heart muscle cells, patient 1 and 2 had mutations in α-sarcoglycan gene, and Patient 3 in γ-sarcoglycan gene.