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

Abstract

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.