KEGG   DISEASE: Myopathy with rimmed ubiquitin-positive autophagic vacuolation
Entry
H02783                      Disease                                
Name
Myopathy with rimmed ubiquitin-positive autophagic vacuolation
Description
Myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is an autosomal dominant myopathy characterized clinically by weakness in distal muscles and pathologically by rimmed ubiquitin-positive autophagic vacuolation. It has been reported that mutations in PLIN4 cause this disease. PLIN4 encodes perilipin 4, a protein member of the perilipins' family. Perilipins coat and regulate the metabolism of lipid droplets and perilipin 4 is the most represented in the muscle tissue.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C75  Distal myopathies
     H02783  Myopathy with rimmed ubiquitin-positive autophagic vacuolation
Gene
PLIN4 [HSA:729359] [KO:K20254]
Other DBs
ICD-11: 8C75
OMIM: 601846
Reference
PMID:15236412
  Authors
Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, Morandi L, Mora M
  Title
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.
  Journal
Ann Neurol 56:133-8 (2004)
DOI:10.1002/ana.20158
Reference
PMID:37145156
  Authors
Maggi L, Gibertini S, Iannibelli E, Gallone A, Bonanno S, Cazzato D, Gerevini S, Moscatelli M, Blasevich F, Riolo G, Mantegazza R, Ruggieri A
  Title
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
  Journal
J Neurol 270:4538-4543 (2023)
DOI:10.1007/s00415-023-11729-8
Reference
PMID:35499779
  Authors
Yang K, Zeng YH, Qiu YS, Lin F, Chen HZ, Jin M, Chen L, Zheng FZ, Ding YL, Cao CY, Lin MT, Chen WJ, Wang ZQ, Wang N
  Title
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
  Journal
Acta Neuropathol 143:733-735 (2022)
DOI:10.1007/s00401-022-02422-7
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