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首页> 外文期刊>Neuromuscular disorders: NMD >Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

机译：糖基化的先天性疾病临床和病理异质性，表现为一种骨髓/近视综合征。

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摘要

Congenital disorders of glycosylation are often associated with muscle weakness in apparent isolation or as part of a multi-systemic disorder. We report here the clinical and pathological features resulting from a homozygous mutation of ALG2 in an extended family. Phenotypic heterogeneity is observed among the small cohort of patients reported to date and is highlighted by our study. Linkage analysis, homozygozity mapping and whole exome sequencing followed clinical and pathological characterization of patients who presented with a congenital limb girdle pattern of weakness with no ocular or bulbar involvement. Nerve stimulation studies were consistent with a congenital myasthenic syndrome. Severity and progression of disease was variable. Muscle biopsies showed myopathic features, ragged red fibers and a sub-sarcolemmal accumulation of structurally normal mitochondria. Whole exome sequencing revealed an indel mutation c.214_224delGGGGACTGGCTdelinsAGTCCCCG, p.72_75delGDWLinsSPR in exon 1 of ALG2. Mutation of ALG2 manifested as a limb girdle pattern of muscle weakness with defects at both the neuromuscular junction and sarcomere. In addition the accumulation and distribution of mitochondria in the diseased muscle and the presence of ragged red fibers were supportive of a mitochondrial myopathy. ALG2 mutation results in a heterogeneous phenotype and care should be taken in categorization and treatment of these patients.
机译：先天性糖基化疾病通常与表观分离的肌肉弱点或作为多全身疾病的一部分有关。我们在此报告临床和病理特征，由ALG2中的纯合体突变在一个大家庭中产生。迄今为止报告的患者的小群体中观察到表型异质性，并通过我们的研究突出显示。联系分析，冠源性测绘和整个外壳测序跟随患者的临床和病理特征，患者呈现先天性肢体腰带模式，没有眼部或挥发杆参与。神经刺激研究与先天性染发剂综合征一致。疾病的严重程度和进展是可变的。肌肉活组织检查显示肌疗法特征，红纤维粗糙的红色纤维和结构正常线粒体的亚麻疹累积。整体exome测序揭示了ALG2的外显子1中的吲哚突变C.214_224DelggGGGACGGCTDELINSAGTCCG，P.72_75delgdwlinsspr。 ALG2的突变表现为肌肉虚弱的肢体腰带图案，具有神经肌肉交叉点和萨米德的缺陷。此外，患病肌肉中线粒体的积累和分布以及缠绕的红纤维存在的存在是对线粒体肌病的支持。 ALG2突变导致异质表型，护理应在这些患者的分类和治疗中进行。

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