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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01536P176611674
DES
Desmin
Homo sapiens