Advertisement

 

 

Myofibrillar and distal myopathies.

Myofibrillar and distal myopathies.
Author Information (click to view)

Palmio J, Udd B,


Palmio J, Udd B, (click to view)

Palmio J, Udd B,

Advertisement
Share on FacebookTweet about this on TwitterShare on LinkedIn

Revue neurologique 2016 9 13() pii 10.1016/j.neurol.2016.07.019

Abstract

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.

Submit a Comment

Your email address will not be published. Required fields are marked *

17 − one =

[ HIDE/SHOW ]