Fragile X Syndrome (Martin-Bell Syndrome)

Introduction So called as there is a ‘fragile site’ on the X chromosome. This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a trinucleotide expansion mutation, but is...

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Friedrich’s Ataxia

Introduction Friedrich’s ataxia is an autosomal recessive disorder resulting from a repeat nucleotide sequence (GAA) in the frataxin gene, which codes for the mitochondrial protein frataxin. It most commonly causes cerebellar signs but can...

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