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

X-Linked Myopathy with Excessive Autophagy; A Case Report.

Author information

1
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
2
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

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.

KEYWORDS:

Autophagy; X-linked myopathy with excessive autophagy; vacuoles

PMID:
31744973
DOI:
10.4103/0028-3886.271280
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