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Identification of a novel mutation in the < em > HACD1 < /em > gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion
J Genet. 2023;102:18.ABSTRACTCongenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristics of CFTD are infantile hypotonia and nonprogressive muscle weakness with a broad range of clinical manifestations. Pathogenic mutations in the HACD1 gene encoding 3-hydroxyacyl-CoA-dehydratase-1 have recently been reported to be associated with this disease. Whole-exome sequencing (WES) was conducted in a 12-year-old girl born to consanguineous parents from ...
Source: Journal of Genetics - February 24, 2023 Category: Genetics & Stem Cells Authors: Neda Jabbarpour Bita Poorshiri Hassan Saei Mohammad Barzegar Mortaza Bonyadi Source Type: research
