Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Acta neuropathologica communications - 12 Apr 2014
Malfatti Edoardo, Lehtokari Vilma-Lotta, Böhm Johann, De Winter Josine M, Schäffer Ursula, Estournet Brigitte, Quijano-Roy Susana, Monges Soledad, Lubieniecki Fabiana, Bellance Remi, Viou Mai Thao, Madelaine Angéline, Wu Bin, Taratuto Ana Lía, Eymard Bruno, Pelin Katarina, Fardeau Michel, Ottenheijm Coen A C, Wallgren-Pettersson Carina, Laporte Jocelyn, Romero Norma B
Abstract excerpt
Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The nebulin (NEB) gene is the most commonly mutated and is thought to account for approximately 50% of genetically diagnosed cases of NM. We undertook a detailed muscle morphological analysis of 14 NEB-mutated NM...
Topics
- Adolescent
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn