Article
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
Muscle & nerve - 1 Feb 2007
Bouldin Anthony A, Parisi Melissa A, Laing Nigel, Patterson Kathleen, Gospe Sidney M
Abstract excerpt
Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic...
Topics
- Actins
- Adult
- Cysteine
- DNA Mutational Analysis
- Family Health
- Humans
- Infant
- Male
- Muscle Fibers, Skeletal
- Mutation
- Myopathies, Nemaline
- Phenylalanine