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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00912P550727415
VCP
Transitional endoplasmic reticulum ATPase -ATPase p97 subunit)
Homo sapiens
PTMD00824Q9UKX24620
MYH2
Myosin-2
Homo sapiens