Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
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DOI：
10.1007/s00415-012-6502-x
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发表时间：
2012-04
影响因子：
6
通讯作者：
I. Pénisson‐Besnier;J. Saint-André;D. Hicks;A. Sarkozy;A. Croué;J. Hudson;Hanns Lochmüller;F. Dubas
中科院分区：
文献类型：
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作者：
I. Pénisson‐Besnier;J. Saint-André;D. Hicks;A. Sarkozy;A. Croué;J. Hudson;Hanns Lochmüller;F. Dubas
编码ANO5的ANO5基因的隐性突变会导致近端肢体带状肌营养不良或远端肌病表型[2]。后者与Miyoshi肌病有许多相似之处，后者是由deferlin基因突变引起的。这两种疾病通常表现在年轻人，最初的小腿肌肉无力，非常高的肌酸激酶(CK)水平，以及肌肉活检的营养不良特征。去铁蛋白免疫染色在无精症中是正常的，而在去铁病中是不存在的。这是首次在ANO5基因突变引起的肌病中发现肌肉坏死性血管炎的报道。一名46岁的男性因不适而住进综合医院。他被诊断为肺炎衣原体感染，并成功地用罗红霉素治疗。无痛性下肢肌无力也被注意到。首发症状是34岁时跑步困难。家族病史中没有神经肌肉疾病。血清CK水平分别为3612和1168IU/L
Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause either a proximal limb-girdle muscular dystrophy or a distal myopathy phenotype [2]. The latter has many similarities to Miyoshi myopathy, caused by mutations in the dysferlin gene. Both disorders usually manifest in young adults by initial calf muscle weakness, very high creatine kinase (CK) levels, and dystrophic features on muscle biopsy. Dysferlin immunostaining is normal in anoctaminopathy whereas it is absent in dysferlinopathy. This is the first report on muscle necrotizing vasculitis observed in a myopathy caused by ANO5 gene mutations.A 46-year-old man was admitted to a general hospital for malaise. He was diagnosed with Chlamydia pneumoniae infection and treated successfully with roxithromycine. A painless lower limb muscle weakness was also noticed. The first symptom was difficulty in running at age 34 years. Family history was negative for neuromuscular disease. Serum CK levels were 3,612 and 1,168 IU/l