What are rare types of congenital muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

However, other rare CMDs do not fit into the three classic categories. These CMDs with their associated genes and clinical phenotypes include the following:

  • Rigid spine syndrome (selenoprotein N, 1[ SEPN1], four-and-a-half LIM domain 1[ FHL1])
  • Mutiminicore disease ( SEPN1)
  •  L-CMD (Lamin A/C [ LMNA])

Other genes that have been associated with CMDs include the following [77] :

  • GTDC2
  • TMEM5
  • B3GALNT2
  • SGK196
  • B3GNT1
  • GMPPB]
  • AG1

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