Maymunah Khries Albert Lim Dipayan Mitra Mark Anderson Jan Bengtsson Ann Bowron Elizabeth Harris Jessica Blickwedel Karen Wood Anna P Basu
10.1177/2329048X231184183
Child Neurol Open
2023 Jul 17;10:2329048X231184183.
focal myoclonus genotype phenotype primary carnitine deficiency
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/37475835/
Case Reports
PMC10354736
37475835
Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
2023