Myotonická dystrofie typ 2: vzácné nebo časté onemocnění v České republice?
| Title in English | Dystrophy of the IInd Type - Rare or Comon Disease? |
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| Authors | |
| Year of publication | 2005 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | myotonic dystrophy of the 2nd type |
| Description | Myotonic dystrophy of the 2nd type is caused by expansion of four nucleotides in gene ZNF9 ("zinc-finger protein 9") on the 3rd chromosome. If compared with myotonic dystrophy of the 1st type (19q13.3), it is a variant occurring mainly in Europe and considered to be of lesser frequency.Both types have a number of common clinical features, but also some dissimilarities in the frequency of clinical manifestations. An examination was carried out in a set of patients with clinical and electrophysiological pictures of myotonic myopathy in whom no mutation corresponding with myotonic dystrophy of the 1st type was found out. In the DNA diagnostics, methods of PCR and "Triplet-Primed" PCR were applied. |
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