Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Titel:
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Auteur:
Pelin, Katarina Sagath, Lydia Lehtonen, Johanna Kiiski, Kirsi Tynninen, Olli Paetau, Anders Johari, Mridul Savarese, Marco Wallgren-Pettersson, Carina Lehtokari, Vilma-Lotta