Lafora disease genetic and rare diseases information center. Report of a case baeta bayon l1, toledo monzon jl1, cabrera marrero b1, jerez olivera e1, cardona guerra p2 resumen caso clinico. If you have problems viewing pdf files, download the latest version of. Researchers took atrofia cortico subcortical scans of the 8 study participants in order to measure cortical volume over time. Frecuentemente es ritmica excepcionalmente es estimulo sensible. Lafora disease is inherited in an autosomal recessive manner. Previous story descargar brunner y suddarth enfermeria medico quirurgica pdf. Sep 29, 2015 if you have problems viewing pdf files, download the latest version of adobe reader. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Lafora disease genetic and rare diseases information. Laforakrankheit epilepsie, progressive, myoklonische, laforatyp progressive myoklonische epilepsie, laforatyp.
Epilepsias y sindromes epilepticos del puber y del. Uchas enfermedades infecciosas han sido eliminadas o. Lafora disease is a recessive neurodegenerative disease autosomal that has no. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. For language access assistance, contact the ncats public information officer.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Permission is granted to copy, distribute andor modify this document under the terms of the gnu free documentation license, version 1. Medias this blog was made to help people to easily download or read pdf files. The disease is due to a mutation in the epm2b gene which results in intracellular accumulation of abnormal glycogen lafora bodies. Recent breedwide testing suggests that the carrier plus affected rate may be as high as 20%. Lafora disease ld is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature wirehaired dachshund.
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