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 HouldenPublished 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.