Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

ConclusionsOur 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.

http://link.springer.com/10.1007/s00415-019-09187-2

Source: Journal of Neurology - January 21, 2019 Category: Neurology Source Type: research