Oconnor E

ORCID: 0009-0008-0324-9852 · 1 paper in corpus

2020

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

Journal of neurology ·doi:10.1007/s00415-020-09827-y

ObjectiveTo identify the genetic cause of complex neuropathy in two siblings from a consanguineous family.MethodsThe patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell li…