Article: Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Frontiers in molecular biosciences
2023 Volume 10, Page(s) 1279700
Abstract: Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozygous ... ...
| Abstract | Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozygous missense variants in the |
|---|---|
| Language | English |
| Publishing date | 2023-12-07 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2814330-9 |
| ISSN | 2296-889X |
| ISSN | 2296-889X |
| DOI | 10.3389/fmolb.2023.1279700 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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