Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M

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DOI: 10.1002/acn3.52154
Published: 2024 Sep
Container: Annals of clinical and translational neurology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/acn3.52154,
  title = {Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.},
  author = {Ranta-Aho J and Felice KJ and Jonson PH and Sarparanta J and Yvorel C and Harzallah I and Touraine R and Pais L and Austin-Tse CA and Ganesh VS and O'Leary MC and Rehm HL and Hehir MK and Subramony S and Wu Q and Udd B and Savarese M},
  year = {2024},
  journal = {Annals of clinical and translational neurology},
  doi = {10.1002/acn3.52154},
  url = {https://doi.org/10.1002/acn3.52154}
}

RIS

TY  - JOUR
TI  - Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
AU  - Ranta-Aho J
AU  - Felice KJ
AU  - Jonson PH
AU  - Sarparanta J
AU  - Yvorel C
AU  - Harzallah I
AU  - Touraine R
AU  - Pais L
AU  - Austin-Tse CA
AU  - Ganesh VS
AU  - O'Leary MC
AU  - Rehm HL
AU  - Hehir MK
AU  - Subramony S
AU  - Wu Q
AU  - Udd B
AU  - Savarese M
PY  - 2024
JO  - Annals of clinical and translational neurology
DO  - 10.1002/acn3.52154
UR  - https://doi.org/10.1002/acn3.52154
ER  -

APA

J, R., KJ, F., PH, J., J, S., C, Y., I, H., R, T., L, P., CA, A., VS, G., MC, O., HL, R., MK, H., S, S., Q, W., B, U., & M, S. (2024). Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.. Annals of clinical and translational neurology. https://doi.org/10.1002/acn3.52154

Source records

pubmed · retrieved 2026-09-25T08:25:09.609Z