Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. RESULTS: Thirtee...

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Detalles Bibliográficos
Autores principales: Petersen, Jens A., Kuntzer, Thierry, Fischer, Dirk, von der Hagen, Maja, Huebner, Angela, Kana, Veronika, Lobrinus, Johannes A., Kress, Wolfram, Rushing, Elisabeth J., Sinnreich, Michael, Jung, Hans H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596355/
https://www.ncbi.nlm.nih.gov/pubmed/26444858
http://dx.doi.org/10.1186/s12883-015-0449-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596355/
https://www.ncbi.nlm.nih.gov/pubmed/26444858
http://dx.doi.org/10.1186/s12883-015-0449-3

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