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Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
J Gen Physiol. 2022 Sep 5;154(9):e202213115. doi: 10.1085/jgp.202213115. Epub 2022 Aug 18.
J Gen Physiol. 2022.
PMID: 35980353
Free PMC article.
Review.
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Lopergolo D, Salvatore S, Sorrentino V, Malandrini A, Santorelli FM, Battisti C.
Lopergolo D, et al.
Neurol Sci. 2023 Apr;44(4):1415-1418. doi: 10.1007/s10072-023-06607-0. Epub 2023 Jan 17.
Neurol Sci. 2023.
PMID: 36648562
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