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Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Neurogenetics - 1 Mar 2021

Lv Xiaoqing, Gao Fei, Dai Tingjun, Zhao Dandan, Jiang Wei, Geng Hongzhi, Liu Fuchen, Lin Pengfei, Yan Chuanzhu

Abstract excerpt

Distal myopathies are a group of clinically and genetically heterogeneous hereditary muscle disorders characterized by progressive muscular weakness starting in the distal parts of the limbs. The most common subtype of distal myopathy is GNE myopathy, a rare muscle disease with autosomal recessive inheritance. Limb-girdle muscular dystrophy 2G (LGMD2G) is a rare autosomal recessive subtype of LGMDs caused by TCAP...

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PMID: 32761539
DOI: 10.1007/s10048-020-00623-4

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