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Minicore Myopathy with External Ophthalmoplegia MeSH Supplementary Concept Data 2024


MeSH Supplementary
Minicore Myopathy with External Ophthalmoplegia
Unique ID
C564969
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C564969
Entry Term(s)
Minicore Disease
Minicore Myopathy
Multi-Minicore Disease
Multicore Disease
Multicore Myopathy
Multicore Myopathy With External Ophthalmoplegia
Multiminicore Disease
Multiminicore Disease With External Ophthalmoplegia
Multiminicore Myopathy
Registry Number
0
Heading Mapped to
*Ophthalmoplegia
Ryanodine Receptor Calcium Release Channel / *deficiency
*Myopathies, Structural, Congenital
Frequency
17
Note
associated with mutations in RYR1
Date of Entry
2012/11/05
Revision Date
2013/10/24
Minicore Myopathy with External Ophthalmoplegia Preferred
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