Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2017.10.049
Abstract: Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent… read more here.
Keywords: neuropathy liability; hereditary neuropathy; pressure palsy; liability pressure ... See more keywords
Muscle contractility in spinobulbar muscular atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-41240-y
Abstract: Spinobulbar muscular atrophy (SBMA) is caused by a trinucleotide repeat expansion in the androgen receptor gene on the X chromosome. There is a toxic effect of the mutant receptor on muscle and neurons resulting in… read more here.
Keywords: atrophy; muscle; spinobulbar muscular; contractility ... See more keywords