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

ConclusionA novel homozygous frameshift deletion inSBF1 was identified in this family. Sensory-motor axonal neuropathy and necklace fibres in biopsy were the major features expanding the phenotypic spectrum ofSBF1-related recessive syndromic neuropathy.

Source: Journal of Neurology - May 21, 2020 Category: Neurology Source Type: research