Fingerprint body myopathy

نویسنده

  • Monique M Ryan
چکیده

Key points • Fingerprint body is a rare congenital myopathy. • Only 5 cases of fingerprint myopathy have been described to date. • Fingerprint myopathy is defined by subsarcolemmal inclusions on muscle biopsy; the inclusions have a characteristic lamellar pattern on electron microscopy. • The genetic basis of fingerprint myopathy is not yet known. • An increasing number of protein aggregate myopathies are now recognized. The multitude of diverse proteins aggregating within muscle fibers suggests a common pathway of impaired extralysosomal degradation of proteins or defects in sarcomeric development and maturation.

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تاریخ انتشار 2018