※ PTMD 2.0 database Online Browse Options
Browse result for Inclusion body myopathy
※ introduction Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles.
Reference
Wiki: Inclusion body myopathy
Reference
Wiki: Inclusion body myopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00912 | P55072 | 7415 | VCP | Transitional endoplasmic reticulum ATPase -ATPase p97 subunit) | Homo sapiens |
| PTMD00824 | Q9UKX2 | 4620 | MYH2 | Myosin-2 | Homo sapiens |
