A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures a...

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Detalles Bibliográficos
Autores principales: Jokela, Manu, Lehtinen, Sara, Palmio, Johanna, Saukkonen, Anna-Maija, Huovinen, Sanna, Vihola, Anna, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586699/
https://www.ncbi.nlm.nih.gov/pubmed/30963254
http://dx.doi.org/10.1007/s00415-019-09307-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586699/
https://www.ncbi.nlm.nih.gov/pubmed/30963254
http://dx.doi.org/10.1007/s00415-019-09307-y

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