DIP2BCGG repeat expansion in siblings with neurodevelopmental disability and progressive movement disorder
Emilie T. Théberge,
Kate Durbano,
Diane Demailly
et al.
Abstract:BackgroundTrinucleotide repeat expansions are an emerging class of genetic variants associated with several movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.ObjectivesTo identify the genetic cause of a severe progressive movement disorder phenotype in two affected brothers.MethodsA family of two affected brothers and unaffected parents had extensive phenotyping and natural history followed since birth. Whole-gen… Show more
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