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Characteristic clinical and ultrastructural findings in nesprinopathies

Heike Kölbel,Angela Abicht,Oliver Schwartz,Istvan Katona,Werner Paulus,Eva Neuen-Jacob,Joachim Weis,Ulrike Schara

European Journal of Paediatric Neurology（2019）

Cited 7|Views18
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Abstract
•Thumb abnormalities in patients with SYNE1 mutations.•Lobulated myonuclei were a consistent ultrastructural feature.•Nuclear envelope pathology not only in myonuclei but also in Schwann cells nuclei.•Schwann cell nuclei are affected, indicating the neurodegenerative phenotype.
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Key words
Abnormal thumb,SYNE 1,Nesprin,Nuclear envelope,Lobulated nuclei,Schwan cell nuclei,Ataxia
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