HNRNPDL LGMD D3肌营养不良患者的呼吸肌受累:对第一位意大利患者的广泛临床描述

Q3 Medicine Acta Myologica Pub Date : 2020-06-01 DOI:10.36185/2532-1900-013
Edoardo Malfatti, Denise Cassandrini, Anna Rubegni, Filippo M Sartorelli, Marcello Villanova
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引用次数: 0

摘要

肢带性肌营养不良是一种主要影响骨骼肌的遗传性疾病,在发病时导致进行性,主要是近端肌无力。常染色体显性LGMD占所有LGMD的10%。hnrnpdl相关肌营养不良症,LGMD1G/LGMD D3 (MIM#609115),是一种极其罕见的常染色体显性成人发病肌病,仅见于少数家族。在这里,我们完全描述了一名58岁的意大利女性的肌肉和呼吸受累,该女性表现为先前报道的HNRNPDL基因的致病性变异C . 1132g > C . p.(Asp378Asn)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.

Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the HNRNPDL gene.

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来源期刊
Acta Myologica
Acta Myologica Medicine-Cardiology and Cardiovascular Medicine
CiteScore
3.70
自引率
0.00%
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0
期刊最新文献
PROCEEDINGS OF THE XXIII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY: PadovaJune 8-10, 2023. Year 2023: a new look for Acta Myologica. Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic. VCP-related myopathy: a case series and a review of literature. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
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