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Vacuolar myopathy MeSH Supplementary Concept Data 2023


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 Preferred
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