COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BACKGROUND: Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6...

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Detalles Bibliográficos
Autores principales: Bao, Mengxin, Mao, Fei, Zhao, Zhangning, Ma, Gaoting, Xu, Guangjun, Xu, Wenjuan, Chen, Huan, Zhu, Meijia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390614/
https://www.ncbi.nlm.nih.gov/pubmed/30808312
http://dx.doi.org/10.1186/s12883-019-1263-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390614/
https://www.ncbi.nlm.nih.gov/pubmed/30808312
http://dx.doi.org/10.1186/s12883-019-1263-0

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