Article
Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Clinical genetics - 1 Dec 2025
Zídková Jana, Lauerová Barbora, Mensová Lívie, Kramářová Tereza, Kopčilová Johana, Réblová Kamila, Soukup Vodičková Magdaléna, Hujňáková Martina, Haberlová Jana, Rohlenová Marie, Mazanec Radim, Šoukalová Jana, Gaillyová Renata, Vyhnálková Emílie, Balaščaková Miroslava, Danhofer Pavlína, Juříková Lenka, Grečmalová Dagmar, Gřegořová Andrea, Plevová Pavlína, Langová Martina, Honzík Tomáš, Magner Martin, Klincová Martina, Solařová Pavla, Šenkeříková Mária, Fajkusová Lenka
Abstract excerpt
Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X-linked (XL). We present 79 unrelated patients with genetically confirmed CM using next-generation sequencing (NGS). A total of 113 mutant alleles...
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