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  • Title: Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
    Author: Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA.
    Journal: Muscle Nerve; 2014 Dec; 50(6):1011-6. PubMed ID: 25088345.
    Abstract:
    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 the degree and pattern of muscle MRI involvement of the entire body, including the tongue and pectoral muscles. RESULTS: Muscle MRI abnormalities in sartorius, adductor magnus, and anterior compartment muscles of the leg suggested NM. A previously unreported fatty infiltration of the tongue was found. A third biopsy after the muscle MRI showed scant nemaline bodies. A novel heterozygous de novo ACTA1 c.611C>T/p.Thr204Ile mutation was detected. CONCLUSIONS: We highlight the contribution of muscle imaging in addressing the genetic diagnosis of ACTA1-related NM.
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