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Myofibrillar Myopathy MeSH Supplementary Concept Data 2022


MeSH Supplementary
Myofibrillar Myopathy
Unique ID
C580316
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C580316
Entry Term(s)
Myofibrillar Myopathies
Registry Number
0
Heading Mapped to
*Myopathies, Structural, Congenital
Frequency
71
Note
A group of herditary myopathies that may be autosomal dominant or recessive. They are caused by mutations in different genes but are morphologically homogeneous. Morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the MYOFIBRILS, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including DESMIN; ALPHA-B-CRYSTALLIN; DYSTROPHIN; and myotilin (OMIM: 604103). OMIM: 601419
Date of Entry
2013/10/24
Revision Date
2016/07/07
Myofibrillar Myopathy Preferred
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