Browsing Det medisinske fakultet by Author "Sagath, Lydia"
Now showing items 1-1 of 1
-
Pelin, Katarina; Sagath, Lydia; Lehtonen, Johanna; Kiiski, Kirsi; Tynninen, Olli; Paetau, Anders; Johari, Mridul; Savarese, Marco; Wallgren-Pettersson, Carina; Lehtokari, Vilma-Lotta (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)Background: Pathogenic variants in the TPM3 gene, encoding slow skeletal muscle α-tropomyosin account for less than 5% of nemaline myopathy cases. Dominantly inherited or de novo missense variants in TPM3 are more common ...