B1 Journal article
Homozygous Nonsense Mutation pQ274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy




List of Authors: Jokela Manu, Baumann Peter, Huovinen Sanna, Penttilä Sini, Udd Bjarne
Publisher: IOS Press
Publication year: 2019
Journal name in source: Journal of neuromuscular diseases
Journal acronym: J Neuromuscul Dis
Volume number: 6
Issue number: 1

Abstract
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.


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Last updated on 2019-21-08 at 20:59