Article
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Neuromuscular disorders : NMD - 1 Feb 2009
Uro-Coste Emmanuelle, Arné-Bes Marie-Christine, Pellissier Jean-François, Richard Pascale, Levade Thierry, Heitz François, Figarella-Branger Dominique, Delisle Marie-Bernadette
Abstract excerpt
Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.