Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

@inproceedings{Malfatti2014MuscleHI,
  title={Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype},
  author={Eduardo Malfatti and V. Lehtokari and Johann Boehm and Josine Marieke de Winter and Ursula Schaeffer and Brigitte Estournet and S. Quijano-roy and Soledad Monges and Fabiana Lubieniecki and R{\'e}mi Bellance and Mai Thao Viou and Ang{\'e}line Madelaine and Bin Wu and Ana L{\'i}a Taratuto and Beatrice Eymard and Katarina Pelin and Michel Fardeau and Coen A. C. Ottenheijm and Carina Wallgren-Pettersson and Jocelyn Laporte and Norma Beatriz Romero},
  booktitle={Acta neuropathologica communications},
  year={2014}
}
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 patients with different clinical forms to define muscle pathological patterns and… CONTINUE READING
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