Title: Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
Authors: Claeys, Kristl ×
Abicht, Angela
Häusler, Martin
Kleinle, Stephanie
Wiesmann, Martin
Schulz, Jörg B
Horvath, Rita
Weis, Joachim #
Issue Date: Aug-2016
Publisher: John Wiley & Sons
Series Title: Muscle & Nerve vol:54 issue:2 pages:328-333
Article number: 10.1002/mus.25125
Abstract: Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) is caused by m.8993T>G/C mutations in the mitochondrial adenosine triphosphate synthase subunit 6 gene (MT-ATP6). Traditionally, heteroplasmy levels between 70% and 90% lead to NARP, and >90% result in Leigh syndrome.
ISSN: 0148-639X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Claeys et al Muscle and Nerve 2016.pdf Published 667KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science