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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Xehetasun bibliografikoak
Argitaratua izan da:J Neurol
Egile Nagusiak: Jokela, Manu, Lehtinen, Sara, Palmio, Johanna, Saukkonen, Anna-Maija, Huovinen, Sanna, Vihola, Anna, Udd, Bjarne
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2019
Gaiak:
Original Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586699/
https://ncbi.nlm.nih.gov/pubmed/30963254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-019-09307-y
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