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Peer-reviewedLicence not statedAmerican Journal of Human Genetics

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

  • Peter Hackman
  • Anna Vihola
  • Henna Haravuori
  • Sylvie Marchand
  • Jaakko Sarparanta
  • Jerome de Seze
  • Siegfried Labeit
  • Christian Witt
  • Leena Peltonen
  • Isabelle Richard
  • Bjarne Udd
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Cite

BibTeXRIS
BibTeX
@article{hackman2026tibial,
  title = {{Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin}},
  author = {Peter Hackman and Anna Vihola and Henna Haravuori and Sylvie Marchand and Jaakko Sarparanta and Jerome de Seze and Siegfried Labeit and Christian Witt and Leena Peltonen and Isabelle Richard and Bjarne Udd},
  journal = {American Journal of Human Genetics},
  year = {2026},
  month = oct,
  doi = {10.1086/342380},
  url = {https://hal.science/hal-05795431v1},
}
RIS
TY  - JOUR
TI  - Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
AU  - Peter Hackman
AU  - Anna Vihola
AU  - Henna Haravuori
AU  - Sylvie Marchand
AU  - Jaakko Sarparanta
AU  - Jerome de Seze
AU  - Siegfried Labeit
AU  - Christian Witt
AU  - Leena Peltonen
AU  - Isabelle Richard
AU  - Bjarne Udd
PY  - 2026
DA  - 2026/10/12
JO  - American Journal of Human Genetics
DO  - 10.1086/342380
UR  - https://hal.science/hal-05795431v1
SN  - 0002-9297
SN  - 1537-6605
ER  -