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Browse result for Neurogenic scapuloperoneal syndrome
※ introduction A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
Reference
DiseaseOntology: Neurogenic scapuloperoneal syndrome
Reference
DiseaseOntology: Neurogenic scapuloperoneal syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01536 | P17661 | 1674 | DES | Desmin | Homo sapiens |
