AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

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A subgroup of autophagic vacuolar myopathies (AVMs) is characterized by unusual autophagic vacuoles with sarcolemmal features (AVSFs) and includes Danon disease and X-linked myopathy with excessive autophagy (XMEA). We suggest referring to this subgroup as ‘AVSF myopathy’ as a new clinical entity. However, the features of AVSF myopathy have not been well established. Therefore, to evaluate the clinical features, we reviewed the clinical histories, muscle specimens, and genetic analyses of Japanese patients with AVSF myopathy.

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