Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy
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DOI：
10.1016/s0960-8966(98)00002-9
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发表时间：
1998-04-01
影响因子：
2.8
通讯作者：
Tomé, FMS
中科院分区：
文献类型：
--
作者：
Uyama, E;Uchino, M;Tomé, FMS
我们调查了两个日本同胞提出眼咽远端肌病，其健康的父母是近亲。为了阐明他们的疾病特征，我们将他们与4例与染色体9 p1-q1相关的边缘空泡远端肌病患者和36例与14q11.2-q13相关的眼咽型肌营养不良患者进行了比较。常染色体隐性遗传性眼咽远端肌病患者的首发症状是胫前肌无力。他们的肱二头肌表现出初始和晚期肌源性变化，分别有3%和6%的肌纤维出现有边空泡。与此相反，患者远端肌病与镶边空泡显示许多镶边空泡，平均在20%的纤维，和他们的眼咽肌幸免。眼咽型肌营养不良症患者无远端优势肌无力，边缘空泡少见。对常染色体隐性遗传性眼咽远端肌病和伴有镶边空泡的远端肌病的超微结构研究显示，16-18 nm的细胞质细丝聚集，但未发现眼咽肌营养不良症特异性的8.5 nm核内包涵体。因此，常染色体隐性遗传性眼咽远端肌病的表型不同于伴有镶边空泡的远端肌病和眼咽肌营养不良症，但与边缘空泡型远端肌病和遗传性包涵体肌病有某些超微结构特征。(C)1998年Elsevier Science B.V.
We investigated two Japanese siblings presenting with oculopharyngodistal myopathy, whose healthy parents were consanguineous. To clarify their disease characteristics, we compared them with four patients with distal myopathy with rimmed vacuoles linked to chromosome 9p1-q1, and 36 patients with oculopharyngeal muscular dystrophy linked to 14q11.2-q13. The first symptom in the patients with autosomal recessive oculopharyngodistal myopathy was weakness of the tibialis anterior muscle. Their biceps muscles showed initial and advanced myogenic changes, with rimmed vacuoles in 3% and 6% of the muscle fibers, respectively. In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared. None of the patients with oculopharyngeal muscular dystrophy showed distal dominant weakness and the occurrence of rimmed vacuoles was rare. Ultrastructural studies in groups of autosomal recessive oculopharyngodistal myopathy and distal myopathy with rimmed vacuoles disclosed a collection of cytoplasmic filaments of 16-18 nm, but oculopharyngeal muscular dystrophy-specific intranuclear inclusions of 8.5 nm were not found. Thus, the phenotype of autosomal recessive oculopharyngodistal myopathy is distinct from distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy, but shares some ultrastructural characteristics with distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. (C) 1998 Elsevier Science B.V.