The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes.

Abstract excerpt

The muscular dystrophies have been traditionally classified based mainly on clinical manifestation and mode of inheritance. Owing to the discoveries of causative genes, new terminologies derived from each gene, such as dystrophinopathy, α-dystroglycanopathy, sarcoglycanopathy and fukutinopathy, have also become common. Mutations of each gene may cause several clinical phenotypes. Some muscular dystrophies...

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• Central Nervous System Diseases
• Dystrophin
• Glycosylation
• Lissencephaly
• Muscular Dystrophies