What are the signs and symptoms of LMNA-deficient congenital muscular dystrophy (CMD)?

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

This is caused by a mutation in the gene that encodes for proteins Laminin A/C

Mutations in LMNA cause a wide variety of disorders discussed in detail in the Medscape Reference article Emery-Dreifuss Muscular Dystrophy, including a CMD with rigid spine.


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