Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J

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DOI: 10.1016/j.gim.2025.101399
Published: 2025 Jun
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2025.101399,
  title = {Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.},
  author = {De Winter J and Van de Vondel L and Ermanoska B and Monticelli A and Isapof A and Cohen E and Stojkovic T and Hackman P and Johari M and Palmio J and Waldrop MA and Meyer AP and Nicolau S and Flanigan KM and Töpf A and Diaz-Manera J and Straub V and Longman C and McWilliam CA and Orbach R and Verma S and Laine R and Donkervoort S and Bonnemann CG and Rebelo A and Züchner S and Grider T and Shy ME and Maystadt I and Demurger F and Cairns A and Beecroft S and Folland C and De Ridder W and Ravenscroft G and Bonne G and Udd B and Baets J},
  year = {2025},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2025.101399},
  url = {https://doi.org/10.1016/j.gim.2025.101399}
}

RIS

TY  - JOUR
TI  - Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
AU  - De Winter J
AU  - Van de Vondel L
AU  - Ermanoska B
AU  - Monticelli A
AU  - Isapof A
AU  - Cohen E
AU  - Stojkovic T
AU  - Hackman P
AU  - Johari M
AU  - Palmio J
AU  - Waldrop MA
AU  - Meyer AP
AU  - Nicolau S
AU  - Flanigan KM
AU  - Töpf A
AU  - Diaz-Manera J
AU  - Straub V
AU  - Longman C
AU  - McWilliam CA
AU  - Orbach R
AU  - Verma S
AU  - Laine R
AU  - Donkervoort S
AU  - Bonnemann CG
AU  - Rebelo A
AU  - Züchner S
AU  - Grider T
AU  - Shy ME
AU  - Maystadt I
AU  - Demurger F
AU  - Cairns A
AU  - Beecroft S
AU  - Folland C
AU  - De Ridder W
AU  - Ravenscroft G
AU  - Bonne G
AU  - Udd B
AU  - Baets J
PY  - 2025
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2025.101399
UR  - https://doi.org/10.1016/j.gim.2025.101399
ER  -

APA

J, D. W., L, V. D. V., B, E., A, M., A, I., E, C., T, S., P, H., M, J., J, P., MA, W., AP, M., S, N., KM, F., A, T., J, D., V, S., C, L., CA, M., R, O., S, V., R, L., S, D., CG, B., A, R., S, Z., T, G., ME, S., I, M., F, D., A, C., S, B., C, F., W, D. R., G, R., G, B., B, U., & J, B. (2025). Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101399

Source records

pubmed · retrieved 2026-09-25T20:07:49.553Z