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Unusual course of nemaline myopathy

Authors
Journal
Neuromuscular Disorders
0960-8966
Publisher
Elsevier
Publication Date
Volume
2
Identifiers
DOI: 10.1016/s0960-8966(06)80013-1
Keywords
  • Rods
  • Congenital Myopathy
  • Scapulo-Peroneal Syndrome

Abstract

Abstract A boy with onset features common for a moderate form of congenital nemaline myopathy, after some years developed scapulo-humeral syndrome. Extra- and intrafusal muscle fibers overloaded with rods and indicating focal degenerative changes were seen in the first biopsy. The biopsy was later repeated and revealed an improvement in muscle architecture with a dramatically decreased number of rods. This transformation suggests that rods, as well as Z-line streaming, might be a reversible anomaly of Z-discs.

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