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Magnetic resonance imaging of muscle in nemaline myopathy

Jungbluth, H; Sewry, CA; Counsell, S; Allsop, J; Chattopadhyay, A; Mercuri, E; North, K; ... Muntoni, F; + view all (2004) Magnetic resonance imaging of muscle in nemaline myopathy. NEUROMUSCULAR DISORD , 14 (12) 779 - 784. 10.1016/j.nmd.2004.08.005.

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Abstract

We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases. there was complete sparing of thigh muscles and selective involvement of tibialis anterior and soleus. In moderate cases, there was predominant involvement of rectus femoris. vastus lateralis and hamstring muscles and diffuse involvement of anterior compartment and soleus. Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. Selective muscle involvement in both genetic categories was distinct from what has been reported in other congenital myopathies We conclude that muscle MRI may be applied to distinguish nemaline myopathy from other conditions with similar clinical and histopathological features, to supplement clinical assessment in individual patients and to help direct genetic testing. (C) 2004 Elsevier B.V. All rights reserved.

Type: Article
Title: Magnetic resonance imaging of muscle in nemaline myopathy
DOI: 10.1016/j.nmd.2004.08.005
Keywords: nemaline (rod) myopathy, NEB gene, ACTA1 gene, muscle MRI, selective muscle involvement, ALPHA-ACTIN GENE, CONGENITAL MYOPATHY, MUSCULAR-DYSTROPHY, MUTATIONS, CORES, DISEASE, RODS, INVOLVEMENT, PHENOTYPE, ACTA1
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/130903
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