Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
The
MYH2
gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in
MYH2
lead to congenital myopathy clinically featured by ophthalmoparesis and predominantly proximal weakness.
MYH2
-myopathy is pathologic...
Alternative Titles
Full title
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
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TN_cdi_doaj_primary_oai_doaj_org_article_3a44d8dc51b44329ad0732315017e487
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3a44d8dc51b44329ad0732315017e487
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-021-01168-9
