Severe congenital actin related myopathy with myofibrillar myopathy features
Author:
Funder
Mayo Clinic Center for Individualized Medicine
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference19 articles.
1. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins;De Bleecker;J Neuropathol Exp Neurol,1996
2. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases;Nakano;J Neuropathol Exp Neurol,1996
3. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999
4. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1;Hung;Neuromuscul Disord,2010
5. Actin mutations are one cause of congenital fibre type disproportion;Laing;Ann Neurol,2004
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2. Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center;Frontiers in Neurology;2020-09-15
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