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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...
Autores principales: | Lu, Yan, Li, Xingang, Wang, Min, Li, Xin, Zhang, Feng, Li, Yun, Zhang, Meng, Da, Yuwei, Yu, Jun, Jia, Jianping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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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 |
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