Recently Identified Congenital Myopathies
Autor: | Werner Stenzel, Josefine Radke, Hans H. Goebel |
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Rok vydání: | 2019 |
Předmět: |
Genetics
Mutation Heterogeneous group Genotype DNA Mutational Analysis Biology medicine.disease_cause Phenotype Congenital onset 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Pediatrics Perinatology and Child Health medicine Humans Neurology (clinical) Gene Molecular Biology 030217 neurology & neurosurgery Myopathies Structural Congenital |
Zdroj: | Seminars in pediatric neurology. 29 |
ISSN: | 1558-0776 |
Popis: | Congenital myopathies (CM) are a large and heterogeneous group of disorders. Many new myopathies with congenital onset have recently been described phenotypically, and their molecular elucidation has rapidly ensued consecutively. CM reported between 2013 and 2017 and their corresponding gene defects have mostly been identified with modern molecular genetic techniques. Here, we report recently identified CM that have not been included in the 2017 gene table so far, of which some have been recognized with mutations in new genes and others have been recognized as variants of previously identified genes, associated with specific CM phenotypes. |
Databáze: | OpenAIRE |
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