Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant

Muscle Nerve. 2021 May;63(5):E41-E44. doi: 10.1002/mus.27183. Epub 2021 Feb 15.

Lyse Ruaud^{1

2}, Boris Keren³, Rabab Debs⁴, Cyril Mignot^{3

5}, Fanny Mochel^{3

6}

¹ INSERM UMR 1141, Neurodiderot, University of Paris, Paris, France.
² Department of Genetics, APHP, Robert-Debré Hospital, Paris, France.
³ Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
⁴ Department of Clinical Neurophysiology, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
⁵ Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France.
⁶ INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

No abstract available

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