Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies

Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 (RFC1) have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome. This genetic alteration has also allowed genetic classification in up to one-third of c...

書誌詳細
主要な著者:	Nagy, S, Carr, A, Mroczek, M, Rinaldi, S, Curro, R, Dominik, N, Japzon, N, Magrinelli, F, Lunn, MP, Manji, H, Reilly, MM, Cortese, A, Houlden, H
フォーマット:	Journal article
言語:	English
出版事項:	Oxford University Press 2024

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