Article
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
Muscle & nerve - 1 Dec 2014
Castiglioni Claudia, Cassandrini Denis, Fattori Fabiana, Bellacchio Emanuele, D'Amico Adele, Alvarez Karin, Gejman Roger, Diaz Jorge, Santorelli Filippo M, Romero Norma B, Bertini Enrico, Bevilacqua Jorge A
Abstract excerpt
INTRODUCTION: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary tool. METHODS: We assessed the clinical, histopathological, MRI, and molecular findings in a 19-year-old patient with NM in whom 2 muscle biopsies with ultrastructural examination showed no nemaline bodies. We analyzed...
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