A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin. [PDF]
Proc Natl Acad Sci U S A, 2023 Schultz LE +6 more
europepmc +1 more source
Inspiratory Muscle Training in Nemaline Myopathy. [PDF]
J Neuromuscul Dis, 2023 van Kleef ESB +5 more
europepmc +1 more source
An update on malignant hyperthermia diagnostics and anaesthetic machine preparation for patients at risk in Africa [PDF]
, 2018 The EMHG first published its protocol for an in vitro contracture test (IVCT) in 19841 and this has ever since formed the bedrock of clinical diagnosis and phenotyping.
Brand, JC, Hopkins, PM
core
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature [PDF]
, 2015 core +1 more source
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review. [PDF]
Cureus, 2023 Mohtisham F +3 more
europepmc +1 more source
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study. [PDF]
Orphanet J Rare Dis, 2023 Lehtokari VL +5 more
europepmc +1 more source
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. [PDF]
Neurol Genet, 2023 Moreno CAM +13 more
europepmc +1 more source
Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]
, 2017 Bamaga, Ahmed K., Weihl, Conrad C.
core +2 more sources
Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force. [PDF]
Int J Mol Sci, 2023 Lindqvist J, Granzier H.
europepmc +1 more source