MUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHY

Castiglioni, C; Cassandrini D.; Fattori, F; Bellacchio, E; D'Amico A.; Alvarez, K; Gejman, R; Díaz, J; Santorelli F.M.; Romero, N. B.; Bertini, E; Bevilacqua J.A.

Keywords: Acta1, congenital myopathy; Nemaline myopathy; Neurogenetics; Type 1 fiber predominance; Whole muscle MRI

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. Muscle Nerve 50: 1011-1016, 2014

Más información

Título según WOS: MUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHY
Título según SCOPUS: Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
Título de la Revista: MUSCLE NERVE
Volumen: 50
Número: 6
Editorial: John Wiley & Sons Inc.
Fecha de publicación: 2014
Página de inicio: 1011
Página final: 1016
Idioma: English
DOI:

10.1002/mus.24353

Notas: ISI, SCOPUS