Affiliations: [a] Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland
| [b] Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Turku, Finland
| [c] Department of Neurology, Central Hospital of Lapland, Rovaniemi, Finland
| [d] Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland
Correspondence to: Manu Jokela, MD, PhD, Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Kiinamyllynkatu 4-8, 20520 Turku, Finland. Tel.: +358 41 547 7211; E-mail: firstname.lastname@example.org.
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.