Badalian L O, Temin P A, Kamennykh L N, Zavadenko N N, Arkhipov B A
Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(8):48-51.
The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).
作者描述了一名6.5岁男孩患杜氏肌营养不良症和先天性鱼鳞病的病例。这是世界文献中首次出现的此类描述。作者讨论了可能的突变变体(染色体畸变或21号染色体上的两个独立基因突变)。