背景:近端肌无力可能是不同类型肌病的临床特征,包括肢带肌营养不良和原发性线粒体肌病。LGMD1B是由LMNA突变引起的。它的特点是进行性虚弱和消瘦导致近端虚弱,心肌病,和炉膛传导阻滞。
目的:在本文中,我们描述了一个患者的病例,该患者表现为肢带无力和双重故障情况-线粒体DNA单缺失和新的LMNA突变.
方法:通过肌肉活检研究病理生理方面,西方印迹分析,NGS核和mtDNA分析以及神经肌肉成像(肌肉和心脏MRI)。
结果:尽管继发性线粒体受累是可能的,不能排除“双重麻烦”综合症。
结论:讨论了两种不同病理条件的假设共存或可能的继发性线粒体参与的含义。
BACKGROUND: Proximal muscle weakness may be the presenting clinical feature of different types of
myopathies, including limb girdle muscular dystrophy and primary mitochondrial myopathy. LGMD1B is caused by LMNA mutation. It is characterized by progressive weakness and wasting leading to proximal weakness, cardiomyopathy, and hearth conduction block.
OBJECTIVE: In this article, we describe the
case of a patient who presented with limb-girdle weakness and a double trouble scenario -mitochondrial DNA single deletion and a new LMNA mutation.
METHODS: Pathophysiological aspects were investigated with muscle biopsy, Western Blot analysis, NGS nuclear and mtDNA analysis and neuromuscular imaging (muscle and cardiac MRI).
RESULTS: Although secondary mitochondrial involvement is possible, a \"double trouble\" syndrome can not be excluded.
CONCLUSIONS: Implication deriving from hypothetical coexistence of two different pathological conditions or the possible secondary mitochondrial involvement are discussed.