Article
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Neuromuscular disorders : NMD - 1 Sept 2004
Wallgren-Pettersson Carina, Pelin Katarina, Nowak Kristen J, Muntoni Francesco, Romero Norma B, Goebel Hans H, North Kathryn N, Beggs Alan H, Laing Nigel G
Abstract excerpt
We present comparisons of the clinical pictures in a series of 60 patients with nemaline myopathy in whom mutations had been identified in the genes for nebulin or skeletal muscle alpha-actin. In the patients with nebulin mutations, the typical form of nemaline myopathy predominated, while severe, mild or intermediate forms were less frequent. Autosomal recessive inheritance had been verified or appeared likely...
Topics
- Actins
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Infant
- Male