Bettencourt C

ORCID: 0000-0001-9090-7690 · 1 paper in corpus
2020
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…