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Browse result for Ullrich congenital muscular dystrophy
※ introduction Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.
UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
UCMD is commonly associated with contractures, joint laxity, muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.
Reference
Wiki: Ullrich congenital muscular dystrophy
Reference
Wiki: Ullrich congenital muscular dystrophy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD11877 | Q99715 | 1303 | COL12A1 | Collagen alpha-1 chain | Homo sapiens |
