Article

Distal myopathies and myofibrillar myopathies are both rare subcategories of
muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of
diseases characterized by distinctive histopathology of abnormal protein
aggregations and myofibrillar disintegration.
All genes causing myofibrillar
myopathy encode proteins that either reside in or associate with the Z-disc.
Distal myopathies are also genetically heterogeneous muscular dystrophies in
which muscle weakness presents distally in the feet and/or hands. A subgroup of
distal myopathies, desminopathy, distal myotilinopathy, ZASPopathy and alpha-B
crystallin-mutated distal myopathy, belong to myofibrillar myopathies and show
similar pathological changes in muscle biopsies. Common features of these
diseases are dominant inheritance and adult-onset of symptoms starting in the
feet and slowly progressing to encompass other muscle groups. Cardiomyopathy is
not a common feature in distal MFM myopathies.
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Langue : ANGLAIS