Full circle to cobbled brain

摘要

Muscular dystrophies are genetic diseases that cause progressive muscle weakness. The best known is that described by Duchenne, which affects boys and is evident from about five years of age, and which results from mutations in the gene encoding a protein called dystrophin. Another subclass is the congenital muscular dystrophies, where muscle weakness is apparent at birth or shortly afterwards. Two of these for which gene mutations have been found are muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). Children carrying the faulty MEB or FCMD genes suffer from both muscle weakness and 'cobblestone lissencephaly', in which a flaw in neuronal migration results in a brain with a bumpy, cobblestone appearance and loss of the normal folding pattern.