Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M. Caroline Duncan"'
Autor:
Cristino Dijamco, Catherine McElveen, Marta I. Arriaza, Yves Lacassie, M. Caroline Duncan, Paul F. Stahls
Publikováno v:
American Journal of Medical Genetics. 84:90-93
We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in unio
Publikováno v:
Archives of Neurology. 39:422-423
• An 8-year-old child died after a clinical course characteristic of infantile neuroaxonal dystrophy. Typical axonal spheroids were found at autopsy and had been seen on a peripheral nerve biopsy specimen taken before death. Identical histologic ab