Mitochondrial abnormalities in the myofibrillar myopathies.
Dresden, Germany. In Eur J Neurol, Nov 2015
Causative mutations have been identified in the genes MYOT, LDB3, DES, CRYAB, FLNC, BAG3, DNAJB6, FHL1, PLEC and TTN, which encode proteins which either reside in the Z-disc or associate with the Z-disc.
Myofibrillar myopathies: State of the art, present and future challenges.
Paris, France. In Rev Neurol (paris), Oct 2015
The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, FLNC and BAG3) are now classically considered as responsible for MFM, other entities such as FHL1 myopathy or Hereditary Myopathy with Early Respiratory Failure linked to mutations of titin can now as well be included in this group.