Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
about
Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.Epidemiology of muscular dystrophies in the Mediterranean area.Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
P2860
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@ast
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@en
type
label
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@ast
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@en
prefLabel
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@ast
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@en
P2093
P2860
P356
P1476
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
@en
P2093
Alexander Lossos
Anders Oldfors
Bjarne Udd
Christopher Lindberg
Haider Katifi
Homa Tajsharghi
Ingrid Mazanti
Leigh B Waddell
Nicola Foulds
Nigel F Clarke
P2860
P2888
P304
P356
10.1038/EJHG.2013.250
P577
2013-11-06T00:00:00Z