Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Nemaline myopathies;Wallgren-Pettersson;Semin Pediatr Neurol,2011
2. Recent advances in nemaline myopathy;Romero;Curr Opin Neurol,2013
3. Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy;Gupta;Am J Hum Genet,2013
4. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy;Miyatake;Am J Hum Genet,2017
5. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant;Sandaradura;Hum Mutat,2018
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4. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness;Neuromuscular Disorders;2023-04
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