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Results 1 - 7 of 7 for Myotonic syndrome
  1. Schwartz-Jampel syndrome 
    ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  2. What do geneticists mean by anticipation?: MedlinePlus Genetics 
    ... the nervous system, such as Huntington's disease , myotonic dystrophy , and fragile X syndrome . Anticipation typically occurs with disorders that are caused ...
    https://medlineplus.gov/.../understanding/inheritance/anticipation - Genetics
  3. HSPG2 gene 
    ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  4. Myotonic dystrophy 
    Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  5. Pilomatricoma 
    ... polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts ...
    https://medlineplus.gov/genetics/condition/pilomatricoma - Genetics
  6. 15q11-q13 duplication syndrome 
    ... seizures, these can include rapid uncontrolled muscle jerks (myotonic ... Lennox-Gastaut syndrome. Seizures can lead to falls, loss of developmental ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  7. SIX5 gene 
    ... is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 ... of the myotonic dystrophy-associated gene, SIX5, is required for muscle ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics