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Results 1 - 10 of 11 for "Charcot-Marie-Tooth" "disease," recessive intermediate A
  1. ... Tooth disease, dominant intermediate e Genetic Testing Registry: Charcot-Marie-Tooth disease, recessive intermediate A Genetic Testing Registry: Charcot-Marie-Tooth disease, type ...
  2. Spinal Muscular Atrophy (SMA) (Muscular Dystrophy Association) - PDF  
    ... People who have only one gene flaw for a recessive disease are said to be carriers and usually show no symptoms. Often, a family has no idea that some members are ...
  3. Limb-Girdle Muscular Dystrophies (LGMD) (Muscular Dystrophy Association) - PDF  
    ... So it isn’t unusual for carriers of a rare recessive disease not to know they’re carriers until someone in the family develops the disease. Just to make things a little more complicated, a person with LGMD may ...
  4. ... recessive, dominant or X-linked. In brief, if a disease is recessive, two copies of the defective gene (one from each parent) are required to produce the disease. Each parent would be a carrier of the gene flaw, but wouldn’t ...
  5. Metabolic Diseases of Muscle (Muscular Dystrophy Association) - PDF  
    ... storage disease Onset: Infancy to adulthood Inheritance: Autosomal recessive disorders, such as McArdle disease, may benefit from light exercise. Researchers believe that ...
  6. Genetics and Neuromuscular Diseases (Muscular Dystrophy Association) - PDF  
    ... chromosome 5. They have no symptoms of the disease, since it takes two such mutations in a recessive disorder to cause symptoms. They had two daughters ...
  7. Charcot-Marie-Tooth and Related Diseases (Muscular Dystrophy Association) - PDF  
    ... other than the X or Y. Therefore, autosomal diseases affect males and females equally. Autosomal recessive means that two copies of a defective gene are required for the fullblown disease. ...
  8. Myopathies (Muscular Dystrophy Association) - PDF  
    ... other than the X or Y. Therefore, autosomal diseases affect males and females equally. Autosomal recessive means that two copies of a defective gene are required for the full-blown ...
  9. Friedreich's Ataxia (FA) (Muscular Dystrophy Association) - PDF  
    ... the mutations underlying FA can run silently through a family, because the disease is inherited in an autosomal recessive pattern. Autosomal refers to the fact that the ...
  10. Mitochondrial Myopathies (Muscular Dystrophy Association) - PDF  
    ... Leigh syndrome, MNGIE and even MDS) are autosomal recessive , meaning that it takes mutations in both copies of a gene to cause disease. Unlike nDNA, mtDNA passes only from mother to ...
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