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X-linked myopathy with excessive autophagy (XMEA) was diagnosed in a 5-year-old boy presenting with proximal muscle weakness and morphological evidence of autophagic vacuoles.
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This case report documents a rare presentation of X-linked myopathy with excessive autophagy in a 5-year-old boy.
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.
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Rao et al. (2019) studied this question. X-linked myopathy with excessive autophagy (XMEA) was diagnosed in a 5-year-old boy presenting with proximal muscle weakness and morphological evidence of autophagic vacuoles.
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