Diagnostic anoctamin ‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

ConclusionsThe data presented here indicate that the ANO5 protein expression is decreased in ANO5‐mutated muscular dystrophy and that most of the non‐truncating pathogenic ANO5 mutations likely destabilize the protein and cause its degradation. The method described here allows direct analysis of human ANO5 protein, which can be used in diagnostics, for evaluating the pathogenicity of the potentially harmful ANO5 variants of uncertain significance.This article is protected by copyright. All rights reserved.

Source: Neuropathology and Applied Neurobiology - April 1, 2017 Category: Neurology Authors: A. Vihola, H. Luque, M. Savarese, S. Penttil ä, M. Lindfors, F. Leturcq, B. Eymard, G. Tasca, B. Brais, T. Conte, K. Charton, I. Richard, B. Udd Tags: Original Article Source Type: research