A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle wea...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: D’Amico, A., Fattori, F., Bellacchio, E., Catteruccia, M., Servidei, S., Bertini, E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Pergamon Press 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3639366/
https://ncbi.nlm.nih.gov/pubmed/23489661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.02.011
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky