Article
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Neurology - 25 Feb 2003
Ryan M M, Ilkovski B, Strickland C D, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield L K, De Girolami U, Iannaccone S T, Laing N G, North K N, Beggs A H
Abstract excerpt
OBJECTIVE: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. METHODS: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed, including biopsies from 19 patients with nemaline myopathy due to alpha-actin (ACTA1) mutations and three with mutations in alpha-tropomyosin(SLOW) (TPM3). For each...
Topics
- Actins
- Australia
- Biopsy
- Cell Nucleus
- Disease Progression
- Glycogen
- Humans
- Muscle Fibers, Skeletal
- Muscle, Skeletal
- Mutation
- Myocardium
- Myopathies, Nemaline
- North America
- Tropomyosin