Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

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Yazhao Mei
Yunyi Jiang
Zhenlin Zhang
Hao Zhang
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[1] Shanghai Sixth People’s Hospital,Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases
[2] Shanghai Jiao Tong University School of Medicine,undefined
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SMALED1; Whole-exome sequencing; Sanger sequencing; Bone metabolism;
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