article_metadata: Katarina Pelin Lydia Sagath Johanna Lehtonen Kirsi Kiiski Olli Tynninen Anders Paetau Mridul Johari Marco Savarese Carina Wallgren-Pettersson Vilma-Lotta Lehtokari
article_metadata: 10.3233/JND-230026
article_metadata: J Neuromuscul Dis
article_metadata: 2023;10(5):977-984.
article_metadata: nmd-cgh array nemaline myopathy rna sequencing tpm3 alpha-tropomyosin linked-read sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37393515/
article_metadata: Myopathies, Nemaline / genetics
article_metadata: Myopathies, Nemaline / genetics Case Reports Exome Sequencing Humans Muscle, Skeletal / pathology Sequence Analysis, RNA Tropomyosin / genetics Tropomyosin / metabolism Tropomyosin TPM3 protein, human
article_metadata: PMC10578209
article_metadata: 37393515
article_metadata: 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
article_metadata: 2023