Title: Novel FHL1 mutation in a family with reducing body myopathy
Authors: Schreckenbach, Tobias
Henn, Wolfram
Kress, Wolfram
Roos, Andreas
Maschke, Matthias
Feiden, Wolfgang
Dillmann, Ulrich
Schulz, Jörg B
Weis, Joachim
Claeys, Kristl # ×
Issue Date: Jan-2013
Publisher: John Wiley & Sons
Series Title: Muscle & Nerve vol:47 issue:1 pages:127-134
Article number: 10.1002/mus.23500
Abstract: Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadione-nitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1).
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

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