一名 CACNA1S 基因 c.1583G>A (p.R528H) 突变的患者患有空泡化纤维和管状聚集但无周期性瘫痪的早发常染色体显性肌病。

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
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引用次数: 0

摘要

CACNA1S 基因的显性突变主要导致低钾周期性麻痹(hypoPP)。一名 68 岁的男性患者从 35 岁开始出现进行性近端无力。肌肉活检显示,萎缩纤维中含有空泡,空泡中含有管状聚集物。外显子组测序显示,CACNA1S基因存在p.R528H (c.1583G>A)杂合突变。众所周知,CACNA1S相关性肌营养不良症(HypoPP)会在成年晚期演变为持续性肌病。然而,孤立的进行性肌病(不伴有 PP)仅有极个别报道,而且从未有过早发病例。我们报告了一例早发性 CACNA1S 相关肌病病例,该病例并无 HypoPP 症状,我们希望提醒临床医生在鉴别诊断较年轻的成人型肌病时考虑该病例,尤其是以空泡变化为特征的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates. Exome sequencing revealed a heterozygous p.R528H (c.1583G>A) mutation in the CACNA1S gene. CACNA1S-related HypoPP evolving to persistent myopathy in late adulthood is a well-known clinical condition. However, isolated progressive myopathy (without PP) was only exceptionally reported and never with an early onset. Reporting a case of early onset CACNA1S-related myopathy in a patient with no HypoPP we intend to alert clinicians to consider it in the differential diagnosis of younger adult-onset myopathies especially when featuring vacuolar changes.

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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
期刊介绍: The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
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