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A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2020-12-01 , DOI: 10.1016/j.nmd.2020.11.014
Maria L Rocha 1 , Carsten Dittmayer 2 , Akinori Uruha 2 , Dirk Korinth 3 , Rabih Chaoui 4 , Dietmar Schlembach 5 , Rainer Rossi 6 , Katarina Pelin 7 , Eun Kyung Suk 3 , Simone Schmid 2 , Hans H Goebel 8 , Markus Schuelke 9 , Werner Stenzel 2 , Benjamin Englert 10
Affiliation  

Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation. We describe severe complex dysmorphic facial and musculoskeletal features by post mortem fetal examination confirming the prenatal diagnosis. Histomorphological and ultrastructural studies of skeletal muscle reveal mini-rods in myotubes caused by a novel homozygous splice-site mutation in NEB (NM_001164508, chr2:g.152,417,623C>A GRCh37.p11 | c.19,102-1G>T ENST00000397345.3). No rods were seen in the myocardium. We discuss the relevance of this mutation in the context of nemaline myopathies associated with early developmental musculoskeletal disorders.

中文翻译:

NEB 中的一种新突变导致胎儿线状体肌病并在妊娠早期出现关节弯曲

线状体肌病是一组在临床和遗传上异质性的先天性肌病,主要以肌肉无力、肌张力低下和呼吸功能不全为特征。在这里,我们报告了血缘父母的男性胎儿患有严重的先天性综合征,其特征是在妊娠 13 周时检测到关节弯曲。我们通过证实产前诊断的死后胎儿检查来描述严重的复杂畸形面部和肌肉骨骼特征。骨骼肌的组织形态学和超微结构研究揭示了由 NEB (NM_001164508, chr2:g.152,417,623C>A GRCh37.p11 | c.19,103030303030303030309-10304) 中新的纯合剪接位点突变引起的肌管中的微型棒. 心肌中未见杆状体。
更新日期:2020-12-01
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