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A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.
| Content Provider | Europe PMC |
|---|---|
| Author | Malfatti, Edoardo Böhm, Johann Lacène, Emmanuelle Beuvin, Maud Guy Brochier Romero, Norma B. Laporte, Jocelyn |
| Copyright Year | 2015 |
| Abstract | AbstractBackground: Nemaline myopathies (NM) are rare and severe muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis.Objective: Here we describe the clinical and histopathological features of a sporadic case presenting with severe NM and cardiomyopathy. Using exome sequencing, we aimed to identify the causative gene.Results: We identified a homozygous nonsense mutation in the last exon of MYO18B, leading to a truncated protein lacking the most C-terminal part. MYO18B codes for an unconventional myosin protein and it is mainly expressed in skeletal and cardiac muscles, two tissues severely affected in the patient. We showed that the mutation does not impact on mRNA stability. Immunostaining and Western blot confirmed the absence of the full-length protein.Conclusion: We propose MYO18B as a novel gene associated with nemaline myopathy and cardiomyopathy. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5240573&blobtype=pdf |
| ISSN | 22143599 |
| Journal | Journal of Neuromuscular Diseases [J Neuromuscul Dis] |
| Volume Number | 2 |
| PubMed Central reference number | PMC5240573 |
| Issue Number | 3 |
| PubMed reference number | 27858739 |
| e-ISSN | 22143602 |
| DOI | 10.3233/jnd-150085 |
| Language | English |
| Publisher | IOS Press |
| Publisher Date | 2015-09-01 |
| Publisher Place | Nieuwe Hemweg 6B, 1013 BG Amsterdam, The Netherlands |
| Access Restriction | Open |
| Rights License | This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License. IOS Press and the authors. All rights reserved |
| Subject Keyword | Congenital myopathy nemaline myopathy cardiomyopathy MYO18B myosin |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Neurology (clinical) |
