A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2018; you can also visit the original URL.
The file type is application/pdf
.
Huntington's Disease with Retinitis Pigmentosa- a Case Report
2017
Faridpur Medical College Journal
<p>Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: autosomal dominant inheritance, choreoathetosis, and dementia. In 1993 the genetic mutation responsible for HD was identified and mapped on the chromosome 4p16.3. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old male patient with HD. Additionally he also had retinitis pigmentosa. His pedigree was
doi:10.3329/fmcj.v12i1.33492
fatcat:w2nsx5wk45h75llhopwiecwuke