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Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature

Pediatric Neurology, 2017
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers.
Umbertina Conti Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno   +2 more
exaly   +2 more sources

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Neuromuscular Disorders, 2011
Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease.
Benedikt Schoser, Vilma-Lotta Lehtokari, Hanns Lochmüller   +2 more
exaly   +2 more sources

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Review of Cardiac Disease in Nemaline Myopathy

Pediatric Neurology, 2015

exaly  

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

Muscle and Nerve, 2016
Orly Elpeleg, Markus Schuelke, Simon Edvardson   +2 more
exaly  

Nemaline myopathies: State of the art

Revue Neurologique, 2016
N B Romero, N B Romero
exaly  

Genetics of the nemaline myopathies and the myotubular myopathies

Neuromuscular Disorders, 1998
C Wallgren-Pettersson
exaly  

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Brain, 2003
Martin Lammens, André Reis, H J Ter Laak   +2 more
exaly  

Two siblings with nemaline myopathy presenting with rigid spine syndrome

Neuromuscular Disorders, 1994
Ayse Serdaroğlu, Haluk Topaloğlu, Türkân Kücükali   +2 more
exaly  

Hypertrophic Cardiomyopathy in a Neonate Associated with Nemaline Myopathy

Congenital Heart Disease, 2012
Arshid Mir, Claudio Ramaciotti, Catherine Ikemba   +2 more
exaly  

Anaesthesia for cardiac surgery in children with nemaline myopathy

Anaesthesia, 1992

exaly