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