MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides thick filament stability. Biallelic molecular def...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Frontiers Media S.A.
2026-05-01
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| Rangatū: | Frontiers in Genetics |
| Ngā marau: | |
| Urunga tuihono: | https://www.frontiersin.org/articles/10.3389/fgene.2026.1809063/full |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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