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



: Jokela Manu, Baumann Peter, Huovinen Sanna, Penttilä Sini, Udd Bjarne

Publisher: IOS Press

: 2019

: Journal of Neuromuscular Diseases

: Journal of neuromuscular diseases

: J Neuromuscul Dis

: 6

: 1

: 143

: 146

DOI: https://doi.org/10.3233/JND-180350


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.



Last updated on 2024-26-11 at 16:46