X 连锁肌病伴过度自噬；病例报告。
X-Linked Myopathy with Excessive Autophagy; A Case Report.
机构信息
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
出版信息
Neurol India. 2019 Sep-Oct;67(5):1344-1346. doi: 10.4103/0028-3886.271280.
PMID:31744973
Abstract
X-linked myopathy with excessive autophagy (XMEA) is a rare, slowly progressive muscle disease characterized by membrane-bound sarcoplasmic vacuoles distinct from other forms of myopathies with vacuoles. We report this rare condition in a 5-year-old boy with proximal muscle weakness and morphological evidence of autophagic vacuoles.
摘要
X 连锁伴过度自噬性肌病（XMEA）是一种罕见的、进行性缓慢的肌肉疾病，其特征是存在与其他伴有空泡的肌病不同的膜结合的肌浆空泡。我们报道了 1 例 5 岁男孩，表现为近端肌无力，存在自噬空泡的形态学证据。
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