更新于：2024-11-01

Myopathy, Myofibrillar, Bag3-Related

Bag3相关肌原纤维肌病

更新于：2024-11-01

基本信息

别名

MFM6、MYOPATHY, MYOFIBRILLAR, 6、Myopathy, Myofibrillar, Bag3-Related

+ [1]

简介-

关联

项与 Bag3相关肌原纤维肌病相关的药物

Chaenomelis Fructus Extract

靶点

BAG3

作用机制

BAG3 inhibitors

在研机构

中藥創新研發中心有限公司

原研机构

中藥創新研發中心有限公司

在研适应症

Bag3相关肌原纤维肌病

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 Bag3相关肌原纤维肌病相关的临床结果

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100 项与 Bag3相关肌原纤维肌病相关的转化医学

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0 项与 Bag3相关肌原纤维肌病相关的专利（医药）

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项与 Bag3相关肌原纤维肌病相关的文献（医药）

2023-01-01·Rinsho Shinkeigaku

末梢神経障害を合併した<i>Bcl2-Associated Athanogene 3</i>（<i>BAG3</i>）変異による筋原線維性ミオパチーの1例

Article

作者: Nakamura, Tomonori ; Hashiguchi, Hiroaki ; Takashima, Hiroshi ; Higuchi, Yujiro ; Takei, Jun ; Nagatomo, Risa

A 19-year-old female, normal at birth, grew up without neck movement when getting up. She needed a handrail to climb stairs since the age of 10 years old, and walked slowly since the age of 16 years old. Neurological examination revealed loss of deep tendon reflexes, decreased vibratory sensation, weakness of distal muscles of the lower extremities, and weakness of mainly cervical trunk muscles suspected to be due to myopathy. Nerve conduction studies suggested axonal polyneuropathy, and needle EMG showed short duration MUP, myotonic discharge, and rimmed vacuoles on muscle biopsy. Genetic analysis revealed a previously reported pathological mutation (p.P209L, heterozygous) in Bcl2-Associated Athanogene 3 (BAG3), and a diagnosis of MFM6 was made. P209L is a poor prognosis myopathy that develops in childhood and is associated with cardiomyopathy. P209L is a solitary myopathy associated with axonal neuropathy and characterized by apex foot contracture and weak neck to trunk flexion. This disease is suspected in young-onset neuromyopathy.

2022-09-01·Journal of Clinical Neuromuscular Disease

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review

Review

作者: Takeguchi, Ryo ; Akaba, Yuichi ; Nishino, Ichizo ; Takahashi, Satoru ; Tanaka, Ryosuke ; Makita, Yoshio ; Kaname, Tadashi ; Kimura, Takashi ; Yanagi, Kumiko

AbstractMyofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with early-onset and progressive muscle weakness, rigid spine, respiratory insufficiency, and cardiomyopathy. Notably, the heterozygous mutation (Pro209Leu) in BAG3 is commonly associated with rapidly progressive cardiomyopathy in childhood. We describe a male patient with the BAG3 (Pro209Leu) mutation. The patient presented at age 7 years with muscle weakness predominantly in the proximal lower limbs. Histologic findings revealed a mixture of severe neurogenic and myogenic changes. His motor symptoms progressed rapidly in the next decade, becoming wheelchair-dependent by age 17 years; however, at the age of 19 years, cardiomyopathy was not evident. This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy.

2021-12-01·Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.

作者: Nigro, Vincenzo ; Torella, Annalaura ; Columbaro, Marta ; Giannotta, Melania ; Valentino, Maria Lucia ; Pini, Antonella ; Ragni, Luca ; Scarpini, Gaia

Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein that plays an important role in many cellular processes. We report the case of a 16-year-old male who at 4 years of age presented with a hypertrophic obstructive cardiomyopathy, then developed axonal sensory motor polyneuropathy, muscle weakness, rigid spine, severe kyphoscoliosis and respiratory failure. Muscle biopsy showed the typical hallmark of myofibrillar myopathy with abnormal cytoplasmic expression of multiple proteins. Ade novo heterozygous common mutation in the BAG3 gene with a c.626C > T (p.Pro209Leu) was discovered on NGS genetic analysis. Mutations in the BAG3 gene are causes of a severe and progressive condition and natural history data are important to be collected. An early diagnosis is critical for prognostic implications in cardiomyopathy and respiratory failure treatment.