Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Johanna PalmioSarah Leonard-LouisSabrina SacconiMarco SavareseSini PenttiläAnna-Lena SemmlerWolfram KressTahseen MozaffarTim LaiTanya StojkovicAndres BerardoRicardo ReisinShahram AttarianAndoni UrtizbereaAna Maria CoboLorenzo MaggiSergei KurbatovSergei NikitinJosé C MilisendaFarzad FatehiMonika RaimondiFernando SilveiraPeter HackmanKristl G ClaeysBjarne UddPublished in: Journal of neurology (2019)
Our collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history.