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A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

Qiang GangConceição BettencourtJanice HoltonChristopher LovejoyViorica ChelbanEmer OconnorYun YuanMary M ReillyMichael HannaHenry Houlden
Published in: Journal of neurology (2020)
A novel homozygous frameshift deletion in SBF1 was identified in this family. Sensory-motor axonal neuropathy and necklace fibres in biopsy were the major features expanding the phenotypic spectrum of SBF1-related recessive syndromic neuropathy.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • muscular dystrophy
  • drug induced
  • optical coherence tomography
  • optic nerve
  • peripheral nerve
  • duchenne muscular dystrophy