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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：先天性糖基化疾病的临床和病理异质性表现为肌无力/肌病综合征。

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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明显分离的肌肉无力或多系统疾病的一部分有关。我们在这里报告了由一个大家庭中的ALG2纯合突变引起的临床和病理特征。表型异质性在迄今为止报道的一小部分患者中观察到，并且在我们的研究中得到了强调。对患有先天性四肢带状无力，无眼或延髓累及的患者进行临床分析和临床表征后，进行连锁分析，纯合作图和整个外显子组测序。神经刺激研究与先天性肌无力综合征一致。疾病的严重程度和进展是可变的。肌肉活检显示肌病特征，参差不齐的红色纤维和结构正常线粒体的肌膜下积聚。整个外显子组测序显示ALG2外显子1中存在一个indel突变c.214_224delGGGGACTGGCTdelinsAGTCCCCG，p.72_75delGDWLinsSPR。 ALG2的突变表现为肌肉无力的肢带模式，在神经肌肉接头和肌节均存在缺陷。另外，患病的肌肉中线粒体的积累和分布以及红色的参差不齐的纤维也支持线粒体肌病。 ALG2突变导致表型异质，在对这些患者进行分类和治疗时应格外小心。

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