PMID- 23622358
OWN - NLM
STAT- MEDLINE
DCOM- 20140327
LR  - 20130429
IS  - 0072-9752 (Print)
IS  - 0072-9752 (Linking)
VI  - 113
DP  - 2013
TI  - Myofibrillar myopathies.
PG  - 1337-42
LID - B978-0-444-59565-2.00005-8 [pii]
LID - 10.1016/B978-0-444-59565-2.00005-8 [doi]
AB  - Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive 
      neuromuscular disorders with considerable clinical and genetic heterogeneity. 
      MFMs are defined morphologically by foci of myofibril dissolution that begins at 
      the Z-disk, accumulation of myofibrillar degradation products, and ectopic 
      expression of a large number of proteins including desmin. To date, mutations in 
      six genes are known to cause MFMs, accounting for approximately half of the MFM 
      patients identified. The causative genes encode mainly sarcomeric 
      Z-disk(-related) proteins: desmin, alphaB-crystallin, myotilin, Z-band alternatively 
      spliced PDZ motif containing protein (ZASP), filamin C and the antiapoptotic 
      BCL2-associated athanogene 3 (Bag3). Although in most MFM patients the disease 
      presents in adulthood and evolves slowly, some patients with desminopathy, 
      alphaB-crystallinopathy or Bag3opathies have an infantile or juvenile disease onset. 
      Cardiac involvement is very common in desminopathies and can sometimes be the 
      initial or only symptom of the disease. Respiratory symptoms are noted during 
      childhood in alphaB-crystallinopathies. Early severe cardiac and respiratory 
      involvement is seen in Bag3opathies. Optical microscopic and immunohistochemical 
      features are similar in MFMs; however, ultrastructural findings can be useful to 
      differentiate between the distinct MFM subtypes. No curative treatment for MFMs 
      is currently available. Careful follow-up, especially of cardiac and respiratory 
      function, is important.
CI  - Copyright (c) 2013 Elsevier B.V. All rights reserved.
FAU - Claeys, Kristl G
AU  - Claeys KG
AD  - Department of Neurology and Institute for Neuropathology, University Hospital 
      RWTH Aachen, Aachen, Germany. Electronic address: claeys_kristl@yahoo.com.
FAU - Fardeau, Michel
AU  - Fardeau M
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Handb Clin Neurol
JT  - Handbook of clinical neurology
JID - 0166161
RN  - 0 (Desmin)
RN  - Myofibrillar Myopathy
SB  - IM
MH  - Child
MH  - Desmin/genetics/metabolism
MH  - Humans
MH  - Muscle, Skeletal/metabolism/*pathology
MH  - Myofibrils/genetics/metabolism/*pathology
MH  - Myopathies, Structural, Congenital/diagnosis/genetics/metabolism/pathology
EDAT- 2013/04/30 06:00
MHDA- 2014/03/29 06:00
CRDT- 2013/04/30 06:00
PHST- 2013/04/30 06:00 [entrez]
PHST- 2013/04/30 06:00 [pubmed]
PHST- 2014/03/29 06:00 [medline]
AID - B978-0-444-59565-2.00005-8 [pii]
AID - 10.1016/B978-0-444-59565-2.00005-8 [doi]
PST - ppublish
SO  - Handb Clin Neurol. 2013;113:1337-42. doi: 10.1016/B978-0-444-59565-2.00005-8.