Article
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Annals of neurology - 1 Jul 2004
Agrawal Pankaj B, Strickland Corinne D, Midgett Charles, Morales Ana, Newburger Daniel E, Poulos Melisa A, Tomczak Kinga K, Ryan Monique M, Iannaccone Susan T, Crawford Tom O, Laing Nigel G, Beggs Alan H
Abstract excerpt
Nemaline myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle weakness and hypotonia. It is clinically heterogeneous and the diagnosis is confirmed by identification of nemaline bodies in affected muscles. The skeletal muscle alpha-actin gene (ACTA1) is one of five genes for thin filament proteins identified so far as responsible for different forms of NM. We have...
Topics
- Actinin
- Actins
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Animals
- Biopsy
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Humans
- Infant