J Clin Neurol.  2017 Jul;13(3):300-302. 10.3988/jcn.2017.13.3.300.

A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

• Ueda K
• Serajee F
• Huq AM

• KMID: 2391677
• DOI: http://doi.org/10.3988/jcn.2017.13.3.300

Abstract

No abstract available.

MeSH Terms

Central Nervous System*
Myopathies, Nemaline*

Figure

• 

  Fig. 1 Axial diffusion-weighted image identifying multiple asymmetric foci of diffusion restriction including in the bilateral centrum semiovale and corona radiata (A), periventricular white matter of the right temporal lobe (B), and posterior limb of the internal capsule, and into the bilateral cerebral pedicle (C). There is relative sparing of the basal ganglia. Axial T2-weighted fluid-attenuated inversion recovery image showing prominence of subarachnoid spaces, with reduced opercularization of the insula with open sylvian fissures (D, indicated by arrows).

Reference

1. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies. Semin Pediatr Neurol. 2011; 18:230–238. PMID: 22172418.

2. Costa CF, Rommelaere H, Waterschoot D, Sethi KK, Nowak KJ, Laing NG, et al. Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. J Cell Sci. 2004; 117(Pt 15):3367–3377. PMID: 15226407.

3. Wallgren-Pettersson C, Beggs AH, Laing NG. 51st ENMC international workshop: nemaline myopathy. 13-15 June 1997, Naarden, the Netherlands. Neuromuscul Disord. 1998; 8:53–56. PMID: 9565992.

4. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001; 50:312–320. PMID: 11558787.