Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Sydney, Australia. In Neurology, Jan 2016
However, we now demonstrate that patients can develop a myopathy with histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects.
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.
BAG3: a new player in the heart failure paradigm.
Philadelphia, United States. In Heart Fail Rev, Jul 2015
BAG3 is a cellular protein that is expressed predominantly in skeletal and cardiac muscle but can also be found in the brain and in the peripheral nervous system.
Diagnosis of muscle diseases presenting with early respiratory failure.
Newcastle upon Tyne, United Kingdom. In J Neurol, May 2015
Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation.
Biomechanical characterization of myofibrillar myopathies.
Erlangen, Germany. In Cell Biol Int, Apr 2015
Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP.