Article
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta neuropathologica communications - 9 Jul 2022
Labasse Clémence, Brochier Guy, Taratuto Ana-Lia, Cadot Bruno, Rendu John, Monges Soledad, Biancalana Valérie, Quijano-Roy Susana, Bui Mai Thao, Chanut Anaïs, Madelaine Angéline, Lacène Emmanuelle, Beuvin Maud, Amthor Helge, Servais Laurent, de Feraudy Yvan, Erro Marcela, Saccoliti Maria, Neto Osorio Abath, Fauré Julien, Lannes Béatrice, Laugel Vincent, Coppens Sandra, Lubieniecki Fabiana, Bello Ana Buj, Laing Nigel, Evangelista Teresinha, Laporte Jocelyn, Böhm Johann, Romero Norma B
Abstract excerpt
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course and prognosis depends on the gene and mutation type. To date, 14 causative genes have been identified, and ACTA1 accounts for more than half of the severe NM cases. ACTA1...
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