Holton J

No ORCID on file · 1 paper in corpus
case-report 2020
Journal of neurology ·doi:10.1007/s00415-020-09827-y

OBJECTIVE: To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. METHODS: The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts c…