What causes TMEM5-associated congenital muscular dystrophy (MDDGA10)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Recessive mutations in transmembrane protein 5 (TMEM5) have been found in cases of cobblestone lissencephaly, [41] as well as in families with patients having Walker-Warburg syndrome or muscle-eye-brain phenotypes. [44]

The function of TMEM5 is unknown. However, it contains an exostosin domain, present in EXT1, which encodes a known glycotransferase .


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