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Clinical and genetic characteristics of Chinese patients with reducing body myopathy.

Neuromuscular disorders : NMD - 1 May 2021

Chen Lei, Lin Hui-Xia, Yang Xin-Xia, Chen Dian-Fu, Dong Hai-Lin, Yu Hao, Liu Gong-Lu, Wu Zhi-Ying

Abstract excerpt

Reducing body myopathy (RBM) is a rare myopathy characterized by reducing bodies (RBs) in morphological presentation. The clinical manifestations of RBM present a wide clinical spectrum, varying from infantile lethal form through childhood and adult benign forms. FHL1 gene is the causative gene of RBM. To date, only 6 Chinese RBM patients have been reported. Here, we reported the clinical presentations and...

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PMID: 33846077
DOI: 10.1016/j.nmd.2021.02.009

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