Recessive mutations in VPS13D cause childhood onset movement disorders
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25204
Abstract: VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a… read more here.
Keywords: movement; recessive mutations; childhood onset; movement disorders ... See more keywords
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23262
Abstract: We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized… read more here.
Keywords: cause mitochondrial; recessive mutations; mutations msto1; msto1 cause ... See more keywords
Genetic Variation: Harmful Recessive Mutations Have Unexpected Effects on Variation
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DOI: 10.1016/j.cub.2019.11.040
Abstract: New data are causing the standard model for the effect of selection on linked neutral variation in low recombination regions, combining the effects of background selection and selective sweeps, to be refined to include harmful… read more here.
Keywords: variation; mutations unexpected; recessive mutations; harmful recessive ... See more keywords
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awz247
Abstract: Congenital malformations of the basal ganglia are rare. De Mori et al. describe a novel syndrome of severe dystonic tetraparesis and intellectual impairment, with hypo/agenesis of the basal ganglia. The syndrome is caused by recessive… read more here.
Keywords: agenesis; recessive mutations; homeobox gene; caused recessive ... See more keywords