| Autor: |
Чамова, Т., Танева, А., Атемин, С., Тодоров, Т., Господинова, М., Тодорова, А., Търнев, И. |
| Zdroj: |
Pediatria; 2019, Vol. 59 Issue 1, p42-44, 3p |
| Abstrakt: |
Collagen VI-related myopathies encompass a group of conditions with a spectrum of clinical severity ranging from mild Bethlem myopathy (BM) to severe Ullrichmuscular dystrophy. The disease is a result of mutations in the COL6A1,COL6A2, and COL6A3 genes that encode 3 of the collagen6 (COL6) chains. BM can be inherited in autosomal dominant trait,although recessive inheritance has also been described.BM is a benign myopathy with onset in the first two decades of life. It is characterized by contractures (commonly finger flexors and ankles) and slowly progressive proximal muscle weakness. The majority of patients remain ambulatory into their fifth decade of life,although muscle weakness may occur after this time. We present the first genetically verified family with BM, due to heterozygous mutation с.1056+G>Ain COL6A1 gene. The clinical onset was in the first decade of life with limb-girdle muscle weakness, rigid spine, ankle contractures, slightly increased creatine kinase, spared ventillatory and cardiac functions. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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