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.
Neurol India. 2019 Sep-Oct;67(5):1344-1346. doi: 10.4103/0028-3886.271280.
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.
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。
