Article
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Human molecular genetics - 15 Dec 2013
Marston Steven, Memo Massimiliano, Messer Andrew, Papadaki Maria, Nowak Kristen, McNamara Elyshia, Ong Royston, El-Mezgueldi Mohammed, Li Xiaochuan, Lehman William
Abstract excerpt
The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins. Some congenital myopathy patients have a hypercontractile phenotype. Recent functional studies demonstrated that ACTA1 K326N and TPM2 ΔK7 mutations were associated with hypercontractility that could be explained by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.