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| At least five
brother-brother pairs, including one set of
identical
twins, and three brother-sister pairs with biochemically proven CPT deficiency have been described. Other patients had siblings with typical clinical symptoms of muscle CPT deficiency. The fact that only one of the two identical twins with biochemically proven CPT deficiency had clinical symptoms suggests that clinically silent forms of CPT deficiency might also exist. In two families, clinically symptomatic CPT deficiency was present in father and son. In another family, mother and son were affected. Muscle CPT was markedly reduced in the son but intermediate in the mother. In another family, both mother and son were clinically affected and had a combined partial CPT and carnitine deficiencies. --Excerpted from the CPT chapter by S. Zierz in Myology, edited by Engel & Franzini-Armstrong (McGraw-Hill,1994) |
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| Related
links: How genetic disorders are inherited Diagrams and explanations on the popular Blazing A Genetic Trail site. How are genetic disorders inherited?  Muscular Dystrophy Association article that traces muscle disorders in several families. Includes graphic illustrations of dominant and recessive inheritance and how each form of inheritance works. Heredity Great explanations and illustrations from The Gene School site. DNA from the beginning A cool animated primer on the basics of DNA, genes and heredity.  To read more about
the genetics of CPT deficiency, visit Keep
the change, CPT espanol, Number
please and Location, location,
location. |
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A brother and sister in Belgium and Israel.
