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| BA686) additionally confirmed by karyotyping (2n = 32, autosomal fundamental number = 53). Limb-girdle muscular dystrophies can either be autosomal dominant (single gene defect on a chromosome from either parent or one copy of a mutant gene and one normal gene, known as type 1 LGMD) or autosomal recessive (a defect or mutation on the gene from the chromosome of each parent is needed, known as type 2 LGMD). Modifier effect of ENOS in autosomal dominant polycystic kidney disease. |
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