A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.

Vissing J, Töpf A, Straub V, Krag T

DOI: 10.1038/s41431-025-01991-x
Published: 2026 Feb
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-025-01991-x,
  title = {A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.},
  author = {Vissing J and Töpf A and Straub V and Krag T},
  year = {2026},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-025-01991-x},
  url = {https://doi.org/10.1038/s41431-025-01991-x}
}

RIS

TY  - JOUR
TI  - A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.
AU  - Vissing J
AU  - Töpf A
AU  - Straub V
AU  - Krag T
PY  - 2026
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-025-01991-x
UR  - https://doi.org/10.1038/s41431-025-01991-x
ER  -

APA

J, V., A, T., V, S., & T, K. (2026). A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01991-x

Source records

pubmed · retrieved 2026-09-26T00:00:28.955Z