KEGG   VARIANT: 4620v1
Entry
4620v1                      Variant                                
Name
MYH2 mutation
Type
Loss of function
Gene
MYH2  myosin heavy chain 2 [KO:K24220]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160740
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01810  Congenital myopathy
Reference
PMID:32578970
  Authors
Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, Grimoldi N, Conte G, Cinnante C, Santorelli FM, Comi GP, Sciacco M, Peverelli L
  Title
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
  Journal
Mol Genet Genomic Med 8:e1320 (2020)
DOI:10.1002/mgg3.1320
Reference
PMID:36380287
  Authors
Hedberg-Oldfors C, Eliasdottir O, Geijer M, Lindberg C, Oldfors A
  Title
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
  Journal
BMC Neurol 22:428 (2022)
DOI:10.1186/s12883-022-02935-4
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