Open Access
| Issue |
Cah. Myol.
Number 17, Juin 2018
|
|
|---|---|---|
| Page(s) | 15 - 18 | |
| Section | Cas cliniques / Case reports | |
| DOI | https://doi.org/10.1051/myolog/201817004 | |
| Published online | 6 juin 2018 | |
- Chanavat V, Janin A, Millat G. A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death. Clin Chim Acta 2016; 453: 80–5. [CrossRef] [Google Scholar]
- Richards S, Aziz N, Bale S, et al. ACMG Laboratory quality assurance committee, standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015; 17: 405–24. [CrossRef] [PubMed] [Google Scholar]
- Nakano S, Engel AG, Waclawik AJ, et al. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55: 549–62. [CrossRef] [PubMed] [Google Scholar]
- Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009; 19: 483–92. [CrossRef] [PubMed] [Google Scholar]
- Vorgerd M, van der Ven PFM, Bruchertseifer V, et al. A Mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005; 77: 297–304. [CrossRef] [Google Scholar]
- Kley RA, Hellenbroich Y, van der Ven PFM, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain J Neurol 2007; 130: 3250–64. [CrossRef] [PubMed] [Google Scholar]
- Fürst DO, Goldfarb LG, Kley RA, et al. Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol 2013; 125: 33–46. [CrossRef] [PubMed] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.