Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion-Reference-Cited by-同舟云学术

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion

Published:2023-10-04 Issue:2 Volume:45 Page:819-823
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Decio Alice^ORCID,Giorda Roberto^ORCID,Panzeri Elena^ORCID,Bassi Maria Teresa^ORCID,D’Angelo Maria Grazia^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-023-07102-2.pdf

Reference10 articles.

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3. Meunier J, Villar-Quiles RN, Duband-Goulet I, Ferreiro A (2021) Inherited defects of the ASC-1 complex in congenital neuromuscular diseases. Int J Mol Sci 22(11):6039. https://doi.org/10.3390/ijms22116039

4. Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P (2022) Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. Eur J Med Genet 65(8):104537. https://doi.org/10.1016/j.ejmg.2022.104537

5. Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A (2020) ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy. Ann Neurol 87(2):217–232. https://doi.org/10.1002/ana25660