Journal
REVUE NEUROLOGIQUE
Volume 172, Issue 10, Pages 587-593Publisher
MASSON EDITEUR
DOI: 10.1016/j.neurol.2016.07.019
Keywords
Distal myopathies; Myofibrillar myopathy; Desmin; Myotilin; ZASPopathy; Alpha-B crystallin
Categories
Ask authors/readers for more resources
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. (C) 2016 Elsevier Masson SAS. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available