ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference12 articles.
1. Skeletal muscle alpha-actin diseases (actinopathies): pathology and mechanisms;Nowak;Acta Neuropathol,2013
2. Association of a novel ACTA1 mutation with a dominant progressive scapuloperoneal myopathy in an extended family;Zukosky;JAMA Neurol,2015
3. Autosomal dominant distal myopathy due to a novel ACTA1 mutation;Liewluck;Neuromuscul Disord,2017
4. Diagnosis and management of immune-mediated myopathies;Milone;Mayo Clin Proc,2017
5. 188th ENMC International workshop: inclusion body myositis, 2–4 December 2011, Naarden, The Netherlands;Rose;Neuromuscul Disord,2013
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1. Exploring challenges in the management and treatment of inclusion body myositis;Current Opinion in Rheumatology;2023-07-25
2. Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects;Neuromuscular Disorders;2023-07
3. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores;Neuromuscular Disorders;2021-02
4. Differential diagnosis of vacuolar myopathies in the NGS era;Brain Pathology;2020-06-15
5. Myopathies with finger flexor weakness: Not only inclusion‐body myositis;Muscle & Nerve;2020-06
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