MeSH Browser

MeSH Supplementary: Vacuolar myopathy
Unique ID: C536522
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536522
Entry Term(s): Autophagic vacuolar myopathy; Myopathy, Autophagic Vacuolar, Infantile-Onset
Registry Number: 0
Heading Mapped to: *Muscular Diseases; *Lysosomal Storage Diseases
Frequency: 49
Note: A myopathy and lysosomal storage disease that is characterized by increased glycogen staining of cardiac and skeletal muscles but normal ACID MALTASE and LAMP2 PROTEIN staining. Biopsy shows intracytoplasmic vacuoles that stain for sarcolemmal proteins and COMPLEMENT SYSTEM PROTEINS. Affected individuals may also have increased serum CREATINE KINASE and exhibit DEVELOPMENTAL DELAY, though many die in early infancy. May be isolated or autosomal recessive. OMIM: 609500
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Vacuolar myopathy MeSH Supplementary Concept Data 2023