Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

BACKGROUND: Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein (FRZB), upregulated in LGMDR1, was identifie...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Casas-Fraile, Leire, Cornelis, Frederique M., Costamagna, Domiziana, Rico, Anabel, Duelen, Robin, Sampaolesi, Maurilio M., López de Munain, Adolfo, Lories, Rik J., Sáenz, Amets
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7245871/
https://ncbi.nlm.nih.gov/pubmed/32448375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01372-1
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