Article

Myofibrillar myopathies (MFM) have been described in the mid-1990s as a group of
diseases sharing common histological features, including an abnormal accumulation
of intrasarcoplasmic proteins, the presence of vacuoles and a disorganization of
the intermyofibrillar network beginning at the Z-disk. 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.
The diagnosis of MFM is not always easy; as histological lesions can be focal,
and muscle biopsy may be disappointing; this has led to a growing importance of
muscle imaging, and the selectivity of muscle involvement has now been described
in several disorders. Due to the rarity of these myopathies, if some clinical
patterns (such as distal myopathy associated with cardiomyopathy due to desmin
mutations) are now well known, surprises remain possible and should lead to
systematic testing of the known genes in case of a typical histological
presentation. In this paper, we aim at reviewing the data acquired on the six
main genes listed above as well as presenting the experience from two French
reference centres, Paris and Marseilles.
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Langue : ANGLAIS