A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Korean Medical Science"
DOI: 10.3346/jkms.2017.32.11.1885
Abstract: Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual… read more here.
Keywords: like phenotypes; cog5; friedreich ataxia; cog5 defect ... See more keywords