New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy

Mov Disord Clin Pract. 2020 Jul 7;7(6):684-687. doi: 10.1002/mdc3.12991. eCollection 2020 Aug.

¹ Department of Neurosciences, Reproductive and Odontostomatological Sciences Federico II University Naples Italy.
² Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris Pisa Italy.
³ Department of Endocrinology and Reproductive Diseases Paris-Saclay University, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris Le Kremlin Bicêtre France.
⁴ Department of Advanced Biomedical Sciences Federico II University Naples Italy.

No abstract available

Keywords: AARS2; leukoencephalopathy; ovarian failure.

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