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Charcot-Marie-Tooth is one of the most common inherited nerve-related disorders. Defects in at least 14 genes cause different forms of this disease.
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CMT1A and 1B, HNPP, and all of the subtypes of CMT2 have autosomal dominant inheritance. Autosomal refers to the first 22 pairs of chromosomes that are the same in males and females.
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Children with CMT have an increased risk for passing on the genes that cause the condition when they start a family of their own. CMT1A and 1B, HNPP, and all of the subtypes of CMT2 have autosomal dominant inheritance.
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CMT is caused by changes (mutations) in any one of a number of genes that carry the instructions to make the peripheral nerves. Genes contain the instructions for how the body grows and develops before and after a person is born.
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CMT is caused by changes (mutations) in any one of a number of genes that carry the instructions to make the peripheral nerves. Genes contain the instructions for how the body grows and develops before and after a person is born.
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Mutations in several genes cause the various types of CMT to occur. The most common form of the disorder, CMT1A, is caused by duplication in the peripheral myelin protein 22 (PMP22) gene.
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Detailed information on single gene defects and patterns of inheritance Genes are what determine your traits, such as eye color and blood type. They are contained on our chromosomes, which normally number 46 (23 pairs) in each cell of our body. There are an estimated 25,000 genes contained on these 46 chromosomes. Genes are made of DNA. DNA is an acronym for deoxyribonucleic acid. DNA is made up of base pairs that code for certain proteins. So, ultimately, a gene, or a section of our DNA, makes a protein. There is also DNA in-between genes, which does not code for anything in particular, but simply serves as a "spacer." Therefore, not all of the DNA in our cells is used to make protein products.
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Detailed information on single gene defects and patterns of inheritance There are many different single gene defects that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
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