Title: | A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates |
Journal : | Neurology, 55, 7 |
Authors: | Sugawara M ; Kato K ; Komatsu M ; Wada C ; Kawamura K ; Shindo S ; Yoshioka N ; Tanaka K ; Watanabe S ; Toyoshima I |
Material Type: | Article |
Publication Date: | 10/2000 |
Size: | p. 986-990 |
Languages: | English |
Keywords : | DES gene ; desminopathy ; genetic mutations ; human ; muscle histopathology ; physiopathology |