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distal myopathies/creathán

Sábháiltear an nasc chuig an gearrthaisce
AiltTrialacha cliniciúlaPaitinní
3 torthaí

Inheritance and genetic mapping of the Campus syndrome (CPS): a high-frequency tremor disease in pigs.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
A new progressive tremor disorder called Campus syndrome (CPS) was observed among the progeny of a normal boar of the Pietrain breed in Germany. Extensive backcross experiments indicate that CPS is inherited as an autosomal dominant trait, and the founder boar, Campus, is believed to be a gonadal

Atypical Parkinsonism in distal myopathy with rimmed vacuoles.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP-N-acetylglucosamine

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
BACKGROUND About 9% of the offspring of a clinically healthy Piétrain boar named 'Campus' showed a progressive postural tremor called Campus syndrome (CPS). Extensive backcross experiments suggested a dominant mode of inheritance, and the founder boar was believed to be a gonadal mosaic. A
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An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

  • Oibreacha i 55 teanga
  • Leigheasanna luibhe le tacaíocht ón eolaíocht
  • Aitheantas luibheanna de réir íomhá
  • Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
  • Léigh foilseacháin eolaíochta a bhaineann le do chuardach
  • Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
  • Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe

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