Article
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Pediatric neurology - 1 Oct 2017
Moreno Cristiane de Araújo Martins, Abath Neto Osório, Donkervoort Sandra, Hu Ying, Reed Umbertina Conti, Oliveira Acary Sousa Bulle, Bönnemann Carsten, Zanoteli Edmar
Abstract excerpt
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. Nemaline myopathy is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent...
Topics
- Actins
- Adolescent
- Child
- Female
- Humans
- Male
- Middle Aged
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline