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Case Reports
. 2021 Mar;89(3):623-624.
doi: 10.1002/ana.25992. Epub 2021 Jan 4.

Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas

Karthik Muthusamy  1 , John P Fasolino  2 , Erika D Driver-Dunckley  3 , Radhika Dhamija  3   4
Affiliations
Case Reports

Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas

Karthik Muthusamy et al. Ann Neurol. 2021 Mar.
No abstract available

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References

    1. Calabresi PA, Silvestri G, DiMauro S, Griggs RC. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve 1994;17:943-945.
    1. Plummer C, Spring PJ, Marotta R, et al. Multiple symmetrical lipomatosis-a mitochondrial disorder of brown fat. Mitochondrion 2013;13:269-276.
    1. Ekbom K. Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. Acta Neurol Scand 1975;51:393-404.
    1. Traff J, Holme E, Ekbom K, Nilsson BY. Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. Acta Neurol Scand 1995;92:394-397.

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