Article
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Neuromuscular disorders : NMD - 1 Jan 2001
Jungbluth H, Sewry C A, Brown S C, Nowak K J, Laing N G, Wallgren-Pettersson C, Pelin K, Manzur A Y, Mercuri E, Dubowitz V, Muntoni F
Abstract excerpt
Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB)...
Topics
- Actins
- Adult
- Biopsy
- Cardiovascular Physiological Phenomena
- Chromosomes, Human, Pair 1
- Creatine Kinase
- DNA Mutational Analysis
- Female
- Humans
- Magnetic Resonance Imaging
- Microscopy, Electron