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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

著者 Balint B , Charlesworth G , Stamelou M , Carr L , Mencacci NE , Wood NW , Bhatia KP
Eur J Neurol.2019 Mar 21 ; ():.
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The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico-radiological phenotypes are a welcome handle to guide the diagnostic work up METHODS: We used exome sequencing to elucidate the genetic cause of a syndrome characterized by generalized dystonia, pyramidal and cerebellar involvement with bilateral striatal necrosis (BSN) and cerebellar atrophy on MRI. Homozygosity mapping and linkage analysis were used in a supportive role. Known genetic causes of BSN were excluded by use of exome data or Sanger Sequencing.
PMID: 30897263 [PubMed - as supplied by publisher]
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