Neuromuscular Disorders最新文献_第10页

286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025 第286届ENMC国际研讨会：肌肉成像：神经肌肉疾病中的人工智能、自动分割和成像数据共享。霍夫多普，荷兰，2025年3月7日至9日

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-08 DOI: 10.1016/j.nmd.2025.106304

Jodi Warman-Chardon , Volker Straub , John Vissing , Sarah Schlaeger , Hermien E. Kan

Quantitative muscle MRI (qMRI) has emerged as a promising non-invasive biomarker for assessing neuromuscular diseases (NMDs). However, clinical implementation is limited by the significant time required for manual muscle segmentation, which restricts analysis to limited muscle regions rather than comprehensive whole-muscle assessment. The 286th European NeuroMuscular Centre (ENMC) workshop brought together 18 international participants from 10 countries to establish consensus on optimal qMRI acquisition protocols and automated analysis tools, revealing that while most centers utilize qMRI techniques, barriers to manual segmentation include limited expertise and excessive time requirements. Automated segmentation methods using machine learning architectures, particularly 3D U-Net models, have demonstrated promising results for individual muscle segmentation. Multi-center studies are starting to implement standardized protocols, while machine learning approaches can distinguish among many NMDs with higher accuracy than human experts. Data sharing platforms and federated learning approaches address the need for larger NMD cohorts with standardized and vendor-agnostic data formats, while maintaining patient privacy. The integration of automated 3D muscle segmentation tools integrated into clinical workflows represents a transformative advancement to revolutionize diagnosis, disease monitoring, and therapeutic assessment in NMDs. This consensus workshop provides a roadmap for accelerating the translation of qMRI from research tools to clinically implemented biomarkers for NMD management.

定量肌肉MRI （qMRI）已成为评估神经肌肉疾病（nmd）的一种有前途的非侵入性生物标志物。然而，临床实施受到人工肌肉分割所需的大量时间的限制，这限制了对有限肌肉区域的分析，而不是全面的全肌肉评估。第286届欧洲神经肌肉中心（ENMC）研讨会汇集了来自10个国家的18名国际参与者，就最佳qMRI采集协议和自动分析工具达成共识，揭示了尽管大多数中心使用qMRI技术，但人工分割的障碍包括有限的专业知识和过多的时间要求。使用机器学习架构的自动分割方法，特别是3D U-Net模型，已经证明了个体肌肉分割的良好结果。多中心研究开始实施标准化协议，而机器学习方法可以比人类专家更准确地区分许多nmd。数据共享平台和联合学习方法解决了更大的NMD队列的需求，这些队列具有标准化和与供应商无关的数据格式，同时维护了患者隐私。将自动3D肌肉分割工具集成到临床工作流程中，代表了革命性的进步，将彻底改变nmd的诊断、疾病监测和治疗评估。本次共识研讨会为加速qMRI从研究工具转化为临床实施的NMD管理生物标志物提供了路线图。

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引用次数: 0

Novel muscle MRI features in Desmin related myasthenic myopathy Desmin相关肌无力肌病的新肌肉MRI特征。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-03 DOI: 10.1016/j.nmd.2025.106302

Dipti Baskar , Seetam Kumar Tumulu , Kiran Polavarapu , Akshata Huddar , Gopikrishnan Unnikrishnan , Seena Vengalil , Saraswati Nashi , Vidya Nittur , Gautham Arunachal , Jitender Saini , Hanns Lochmuller , Atchayaram Nalini

Primary desminopathies often present as myofibrillar myopathy with predominant dominant inheritance. There are only few reports of recessive desminopathies. Distinct muscle MRI features with predominant involvement of gluteus maximus, semitendinosus, sartorius, gracilis and peroneal muscles have been described in dominant desminopathies. We report five patients with recessive desminopathies carrying novel homozygous DES variants (c.1023+5G>A and c.958delG). All presented with features of congenital myasthenic syndrome since early childhood. Novel MRI features with fatty infiltration of gluteus medius/ minimus, adductor magnus, quadriceps femoris and hamstrings were noted. Gracilis and short head of biceps femoris were consistently spared. In the leg, in addition to peroneal muscle involvement, there was severe fatty atrophy of anterior leg muscles. There was also myoedema posterior leg compartment. Thus, this study expands the imaging features of desminopathies with myasthenic syndrome.

原发性末路病变常表现为显性显性遗传的肌原纤维性肌病。关于隐性末梢病变的报道很少。明显的肌肉MRI特征，主要累及臀大肌、半腱肌、缝阔肌、股薄肌和腓肌。我们报告了5例携带新型纯合DES变异（c.1023+5G>A和c.958delG）的隐性desmin病患者。自儿童早期起均表现出先天性肌无力综合征的特征。新的MRI特征，脂肪浸润臀中/小肌，大内收肌，股四头肌和腘绳肌。股薄肌和股二头肌短头始终不受影响。在腿部，除了腓肌受累外，腿前肌有严重的脂肪萎缩。下肢后腔室肌水肿。因此，本研究扩大了肌无力综合征的末路病变的影像学特征。

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引用次数: 0

A historical perspective on the morphology of normal and pathological striated muscle 正常和病理横纹肌形态学的历史观察

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-03 DOI: 10.1016/j.nmd.2025.106301

Mégane Le Quang , Jean-Michel Vallat , Marie-Laure Martin-Négrier , Stéphane Mathis

Striated muscles are fundamental components of the human body, playing a central role in motor function. Since antiquity, muscle structure and function have been subjects of inquiry, initially grounded in descriptive anatomical observations. Only with scientific progress and the development of new investigative tools—particularly microscopy—did the histological study of muscle begin to evolve into its current form. The histological examination of normal striated muscle has been instrumental in identifying key pathological features of neuromuscular disorders. Beginning with pivotal discoveries in the 19th century, followed by significant advances throughout the 20th century, our present understanding of myopathology has been shaped by this cumulative progress. Notably, muscle biopsy—now a routine diagnostic procedure in suspected myopathies—has played a critical role in these developments. This review presents a systematic approach that effectively illustrates the key steps in the histological analysis of normal and pathological striated muscle.

横纹肌是人体的基本组成部分，在运动功能中起着核心作用。自古以来，肌肉结构和功能一直是研究的主题，最初是基于描述性解剖观察。只有随着科学的进步和新的研究工具——尤其是显微镜——的发展，肌肉的组织学研究才开始演变成现在的形式。正常横纹肌的组织学检查有助于识别神经肌肉疾病的关键病理特征。从19世纪的关键发现开始，随后是整个20世纪的重大进展，我们目前对肌病理学的理解是由这些累积的进步形成的。值得注意的是，肌肉活检在这些发展中发挥了关键作用，现在是怀疑肌病的常规诊断程序。这篇综述提出了一个系统的方法，有效地说明了正常和病理横纹肌的组织学分析的关键步骤。

引用次数: 0

Safety and efficacy of dichlorphenamide in patients with periodic paralysis: A systematic review and meta-analysis 二氯苯胺在周期性麻痹患者中的安全性和有效性：一项系统回顾和荟萃分析。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-27 DOI: 10.1016/j.nmd.2025.106300

Samna Haider , Ahmed Daud Siddiqui , Muhammad Asad , Marium Amjad , Nidal Bin Kamran , Hoor Ul Ain , Ayesha Khan , Hussain Haider Shah , Shahreena Athar Siddiqui , Amama Anis , Elsa Khan , Radeyah Waseem

Primary periodic paralysis (PPP) comprises inherited ion channelopathies, marked by episodic or sustained muscle weakness. Dichlorphenamide has been investigated as a treatment option, however existing studies report inconsistent and variable findings regarding its efficacy. To clarify these inconsistencies, we conducted a meta-analysis and systematic review evaluating its effectiveness in managing PPP. A comprehensive literature exploration was undertaken across multiple databases encompassing studies disseminated up to July 2025, assessing efficacy of dichlorphenamide in PPP. Primary outcomes encompassed mean changes in weekly attack frequency and severity-weighted scores. Meta-analysis was performed using RevMan, reporting mean differences (MD), statistical significance was ascribed to p-values < 0.05. Evidence certainty was evaluated using the GRADE framework. Clinically significant reductions in the frequency of weekly periodic paralytic attacks were observed in both the hyperkalemic and hypokalemic subgroups (MD -1.72, P-value: 0.01), as well as across the age subgroups, adolescents and adults (MD -0.95, P-value: <0.00001). Analysis of severity-weighted attack scores also revealed significant improvements across both etiological hyperkalemic and hypokalemic categories (MD -1.37, P-value: 0.002), and age-based subgroups (MD -1.28, P-value: <0.00001). Along with therapeutic benefits, some adverse effects were also associated with dichlorphenamide, such as paresthesias (p < 0.00001), cognitive disturbances (p: 0.008), dysgeusia (p: 0.01), and rash (p: 0.006). The GRADE analysis confirmed high-certainty evidence for primary outcomes, supporting dichlorphenamide’s consistent efficacy across etiologies and ages, though its side effects necessitate careful monitoring and counseling.

原发性周期性麻痹（PPP）包括遗传性离子通道病变，以间歇性或持续性肌肉无力为特征。二氯非胺作为一种治疗选择进行了研究，但是现有的研究报告了关于其疗效的不一致和不同的结果。为了澄清这些不一致，我们进行了一项荟萃分析和系统回顾，评估了其在管理PPP方面的有效性。在多个数据库中进行了全面的文献检索，其中包括截至2025年7月传播的研究，评估了二氯苯胺对PPP的疗效。主要结果包括每周发作频率和严重程度加权评分的平均变化。采用RevMan软件进行meta分析，报告平均差异（MD）， p值< 0.05为有统计学意义。使用GRADE框架评估证据确定性。在高钾血症和低钾血症亚组（MD -1.72， p值：0.01）以及整个年龄亚组，青少年和成人（MD -0.95， p值：0.01）中观察到每周周期性麻痹发作频率的临床显著降低。

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引用次数: 0

HMGCR-related muscular dystrophy: a case of severe neonatal-onset form hmgcr相关性肌营养不良：新生儿发病的严重形式1例。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-26 DOI: 10.1016/j.nmd.2025.106299

Jariya Upadia , Yuwen Li , Yoshinori Osaki , Seiya Mizuno , Satoru Takahashi , Hitoshi Shimano

We report a case of HMGCR-related limb-girdle muscular dystrophy (LGMD) with neonatal onset and early lethality. The patient, homozygous for the p.Arg641Cys variant in HMGCR, presented with profound hypotonia, respiratory failure by 5 months, and markedly elevated creatine kinase (CK). This case stands out among the 17 previously reported patients for its extremely early onset and rapid clinical deterioration. Functional studies confirmed the pathogenicity of the variant: in vitro assays showed severely impaired HMGCR enzymatic activity, and in vivo modeling using homozygous knock-in mice resulted in embryonic lethality, underscoring its deleterious effect on essential metabolic processes. The patient’s early death highlights the urgent need for targeted therapies and early diagnosis. This case expands the clinical and molecular spectrum of HMGCR-related LGMD and supports refining phenotype classification based on genotype–phenotype correlations and age of onset to improve diagnostic precision.

我们报告一例hmgcr相关的四肢肌营养不良症（LGMD）与新生儿发病和早期死亡。该患者为HMGCR p.a g641cys变异纯合子，5个月后出现深度张力低下，呼吸衰竭，肌酸激酶（CK）明显升高。该病例在先前报道的17例患者中因其极早发病和快速临床恶化而突出。功能研究证实了该变异的致病性：体外实验显示HMGCR酶活性严重受损，使用纯合子敲入小鼠的体内模型导致胚胎致死，强调了其对基本代谢过程的有害影响。患者的早逝凸显了对靶向治疗和早期诊断的迫切需要。该病例扩展了hmgcr相关LGMD的临床和分子谱，并支持基于基因型-表型相关性和发病年龄的表型分类，以提高诊断精度。

引用次数: 0

Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility 恶性高热易感性个体中新的潜在致病RYR1变异的鉴定

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-25 DOI: 10.1016/j.nmd.2025.106296

Daniela Rossi , Carlotta Pranzo , Sara Roccabianca , Lucia Galli , Alfredo Orrico , Giovanna Sorbello , Vincenzo Tegazzin , Pasquale D’Onofrio , Armando Fucci , Salvatore Quarta , Stefano Perni , Egidio Maria Rubino , Matteo Serano , Gianna Berti , Diego Lopergolo , Alessandro Malandrini , Filip Van Petegem , Vincenzo Sorrentino

Malignant Hyperthermia Susceptibility (MHS) is a pharmacogenetic disorder triggered by volatile anesthetics and muscle relaxants, leading to a hypermetabolic reaction in skeletal muscle that can be fatal if untreated. Diagnosis relies on an in vitro contracture test (IVCT) on muscle biopsy and/or genetic testing for pathogenic variants in the RYR1 gene, which accounts for most cases; less frequently, variants are found in CACNA1S and STAC3. However, unlike the IVCT, genetic testing is limited by the large number of RYR1 variants classified as of uncertain significance (VUS), preventing it from fully replacing the IVCT.

We report data from 250 MHS individuals followed over 20 years, in whom 100 RYR1 and 3 CACNA1S variants were identified. Among the RYR1 variants, 81 were previously reported and 19 were novel, all classified as VUS according to European Malignant Hyperthermia Group (EMHG) and Variant Curation Expert Panel (VCEP) criteria. Similarly, of the 3 CACNA1S variants, 1 was previously reported and 2 were classified as VUS.

The reporting of novel variants is crucial for improving the accuracy and consistency of variant classification, thereby supporting a more precise interpretation of their clinical significance.

恶性高热易感性（MHS）是一种由挥发性麻醉剂和肌肉松弛剂引发的药物遗传疾病，导致骨骼肌的高代谢反应，如果不治疗可能致命。诊断依赖于肌肉活检的体外挛缩试验（IVCT）和/或RYR1基因致病变异的基因检测，这占大多数病例；在CACNA1S和STAC3中发现的变异较少。然而，与IVCT不同的是，基因检测受到大量被归类为不确定意义（VUS）的RYR1变异的限制，使其无法完全取代IVCT。我们报告了来自250名MHS个体的数据，随访超过20年，其中鉴定出100个RYR1和3个CACNA1S变体。在RYR1变异中，81个先前报道过，19个是新发现的，根据欧洲恶性高热组（EMHG）和变异管理专家小组（VCEP）的标准，所有这些变异都被归类为VUS。同样，在3个CACNA1S变异中，1个先前报道过，2个被归类为VUS。新变异的报告对于提高变异分类的准确性和一致性至关重要，从而支持对其临床意义的更精确解释。

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引用次数: 0

Aseptic pyomyositis in Behçet’s disease: a case report and narrative review of muscle involvement phenotypes behaperet病的无菌性化脓性炎：一例报告和肌肉受累表型的叙述回顾。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-25 DOI: 10.1016/j.nmd.2025.106297

Eleonora Torchia , Werner Stenzel , Raphael Raspe , Hans-Hilmar Goebel , Udo Schneider , Martin Nielsen

We report the case of a 54-year-old male patient with Behçet Disease (BD) complicated by aseptic pyomyositis with features of medium vessel vasculitis. His clinical course was characterized by severe myalgia, a palpable mass in the left quadriceps, blistering and ulcerative skin lesions, and systemic inflammation. Laboratory tests revealed neutrophilic leukocytosis, markedly elevated C-reactive protein, and approximately 13-fold increased creatine kinase levels. MRI demonstrated diffuse and asymmetric skeletal muscle oedema in the lower limbs, suggestive of multifocal abscess-like lesions. Muscle biopsy revealed sterile pyomyositis with granulocytic-necrotizing infiltrates and fibrinoid vascular necrosis with massive endomysial inflammatory infiltration. Muscle symptoms responded well to high-dose corticosteroid therapy, while cutaneous ulcers were initially refractory and improved only after multiple immunosuppressive treatments. This case highlights the complexity of diagnosing and managing severe muscular involvement and treatment-resistant skin manifestations in the context of BD.

我们报告一例54岁男性behet病（BD）合并无菌性化脓炎，以中血管炎为特征。他的临床过程的特点是严重的肌痛，可触及的肿块在左股四头肌，起泡和溃疡性皮肤损伤，和全身炎症。实验室检查显示中性粒细胞增多，c反应蛋白明显升高，肌酸激酶水平升高约13倍。MRI显示下肢弥漫性不对称骨骼肌水肿，提示多灶性脓肿样病变。肌肉活检显示无菌性化脓性炎伴粒细胞坏死浸润和纤维蛋白样血管坏死伴大量肌内膜炎症浸润。肌肉症状对高剂量皮质类固醇治疗反应良好，而皮肤溃疡最初是难治性的，只有在多次免疫抑制治疗后才得到改善。这个病例强调了在双相障碍的背景下，诊断和处理严重肌肉受累和治疗抵抗性皮肤表现的复杂性。

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引用次数: 0

Expression of genetic peripheral neuropathies in South African children 遗传性周围神经病变在南非儿童中的表达

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-22 DOI: 10.1016/j.nmd.2025.106283

Sharika V Raga , Gwendoline Q Kandawasvika , Alvin Ndondo , Michael G Hanna , Mary M Reilly , Christopher J Record , Amanda Krause , Fahmida Essop , Alina Esterhuizen , Jo M Wilmshurst

Genetic peripheral neuropathies have prevalence of 1:2500–1:10,000 in populations of European ancestry but are underreported in African populations. This retrospective cross-sectional study described 64 children with genetic peripheral neuropathy attending a neuromuscular disease centre in South Africa. Twenty-one children (21/64, 33 %) had confirmed molecular diagnoses, and 43/64 (67 %) were diagnosed via histology and neurophysiology. In seven children, next generation sequencing did not identify a causative variant. The identified genetic causes were PMP22 duplications (n = 11), and variants in ATL1 (n = 1), IGHMBP2 (n = 2), MPZ (n = 1), MFN2 (n = 1), MTMR2 (n = 2), SH3TC2 (n = 1), SLC12A6 (n = 1), and SLC52A3 (n = 1). Axonal neuropathy was most common (47/64, 73 %), affecting 9/12 children with African, 17/26 Mixed, and 21/26 European ancestry. Only two of the 11 children with PMP22 duplication were of Indigenous Black African ancestry. Access to genetic closure for children in sub-Saharan Africa remains a challenge due limited access to genetic testing. In this study there was a predominance of unsolved axonal diseases. PMP22-related CMT1A, appeared rare in children of Indigenous Black African ancestry. More research is needed to elucidate the genetic underpinnings of neuropathies in Africa, for informed and relevant genetic and clinical diagnostic protocols for local patients.

遗传周围神经病变在欧洲血统人群中的患病率为1:2500 - 1:10 000，但在非洲人群中报道不足。这项回顾性横断面研究描述了64名参加南非神经肌肉疾病中心的遗传性周围神经病变儿童。21例患儿（21/ 64,33 %）经分子诊断，43/64（67 %）经组织学和神经生理学诊断。在7名儿童中，下一代测序没有发现致病变异。确定的遗传原因为PMP22重复（n = 11），以及ATL1 （n = 1）、IGHMBP2 （n = 2）、MPZ （n = 1）、MFN2 （n = 1）、MTMR2 （n = 2）、SH3TC2 （n = 1）、SLC12A6 （n = 1）和SLC52A3 （n = 1）的变异。轴突神经病变最常见（47/64,73%），影响9/12的非洲、17/26混血和21/26欧洲血统的儿童。在11名携带PMP22重复基因的儿童中，只有2名是非洲土著黑人血统。由于获得基因检测的机会有限，撒哈拉以南非洲儿童获得基因封闭仍然是一项挑战。在这项研究中，未解决的轴突疾病占主导地位。pmp22相关的CMT1A在土著非洲黑人血统的儿童中很少见。需要更多的研究来阐明非洲神经病的遗传基础，为当地患者制定知情和相关的遗传和临床诊断方案。

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引用次数: 0

Challenges in myasthenia gravis diagnosis: an analysis of the diagnostic process of myasthenia gravis in a specialized clinic 重症肌无力诊断的挑战：重症肌无力专科诊断过程分析

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-20 DOI: 10.1016/j.nmd.2025.106284

A Vesperinas , J Rocaspana-Codana , D Reyes-Leiva , M Caballero-Ávila , Á Carbayo , R Collet-Vidiella , L Llansó , E Gallardo , J Turon-Sans , R Rojas-García , E Cortés-Vicente

Diagnosis of MG can be complicated and consequent delays in diagnosis can lead to potentially life-threatening situations. We designed a retrospective, observational study to review the diagnostic process of patients with suspicion of MG in real-world practice, identifying pitfalls and the most common mimic entities. Of the 561 patients referred with suspected MG, it was ruled out in 167 (29 %). An alternative diagnosis was reached in 53.9 %, showing high heterogeneity among these entities. During the diagnostic process, the cornerstone was the clinical picture, and in 30 % of the mimic group no further studies were needed. Regarding antibodies, 7.9 % of patients in MG mimic group had a previous, positive anti-AChR determination, later confirmed as a false positive result. Up to 19 % of patients in the mimic group showed abnormalities in the single fiber electromyography. This study highlights the diagnostic challenge in patients with suspected MG, especially in seronegative cases. In these patients, it took a mean of >2 years to rule out MG, and up to 23 % of these patients received immunosuppressants during this process.

MG的诊断可能很复杂，随后的诊断延误可能导致潜在的危及生命的情况。我们设计了一项回顾性观察性研究，以回顾现实世界中疑似MG患者的诊断过程，确定陷阱和最常见的模拟实体。在561例疑似MG的患者中，167例（29% %）被排除。替代诊断达到53.9% %，显示这些实体之间的高度异质性。在诊断过程中，临床图像是基础，30% %的模拟组不需要进一步的研究。关于抗体，7.9 %的MG模拟组患者先前有抗achr检测阳性，后来证实为假阳性结果。高达19. %的模拟组患者显示单纤维肌电图异常。这项研究强调了对疑似MG患者的诊断挑战，特别是在血清阴性的病例中。在这些患者中，排除MG的平均时间为2年，在此过程中，高达23% %的患者接受了免疫抑制剂治疗。

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引用次数: 0

Becker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener 贝克肌营养不良症（BMD）是由原Becker和Kiener家族的肌营养不良蛋白错义突变引起的

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-11-13 DOI: 10.1016/j.nmd.2025.106281

Wolfram Kress , Ute Hehr , Berthold Schalke , Clemens R. Mueller , Tiemo Grimm

Becker muscular dystrophy, BMD (#300,324) was first described by Becker and Kiener in 1955 and later recognised as a clinically milder allelic form of Duchenne muscular dystrophy (DMD). In muscle biopsies, BMD is characterized by the residual expression of dystrophin protein resulting in an apparently partial function. The mutations underlying BMD belong to the milder end of the wide spectrum of dystrophin mutations. We had the opportunity to study the mutation in a recent offspring of the original family of Becker and Kiener and identified a single amino acid substitution in exon 3 of the dystrophin gene: c.136G>T, p.(Asp46Tyr), a missense mutation which has already been described in another BMD family from Italy.

Becker muscular dystrophy， BMD（#300,324）于1955年由Becker和Kiener首次描述，后来被认为是临床上较轻的杜氏肌营养不良症（DMD）的等位基因形式。在肌肉活检中，BMD的特征是肌营养不良蛋白的残余表达导致明显的部分功能。BMD的突变属于肌营养不良蛋白突变谱中较温和的一端。我们有机会研究Becker和Kiener原始家族最近的后代的突变，并在肌营养不良蛋白基因的第3外显子上发现了一个氨基酸替换：c.136G>；T, p.(Asp46Tyr)，这个错义突变已经在意大利的另一个BMD家族中被描述过。

引用次数: 0