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A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations. The age of onset ranged from the 30s to the 50s. Hip gi...

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Detalles Bibliográficos
Autores principales: Lu, Yan, Li, Xingang, Wang, Min, Li, Xin, Zhang, Feng, Li, Yun, Zhang, Meng, Da, Yuwei, Yu, Jun, Jia, Jianping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377676/
https://www.ncbi.nlm.nih.gov/pubmed/22723986
http://dx.doi.org/10.1371/journal.pone.0039288