scapuloperoneal spinal muscular atrophy

A clinically variable neuromuscular disorder (OMIM:181405) characterised by neurogenic scapuloperoneal (girdle) amyotrophy, laryngeal paralysis, congenital absence of muscles, progressive girdle atrophy and progressive distal weakness and amyotrophy.
Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.

单词	scapuloperoneal spinal muscular atrophy
释义	scapuloperoneal spinal muscular atrophy scapuloperoneal spinal muscular atrophy A clinically variable neuromuscular disorder (OMIM:181405) characterised by neurogenic scapuloperoneal (girdle) amyotrophy, laryngeal paralysis, congenital absence of muscles, progressive girdle atrophy and progressive distal weakness and amyotrophy. Molecular pathology Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure. AcronymsSeeSPSMA
随便看	jaundiced jaundiced eye jaundiced eye, (look on) with a jaundicedly jaundice index jaundice, neonatal jaundice of newborn july 2, 2014 july 2, 2015 july 2, 2016 july 2, 2017 july 2, 2018 july 2, 2019 july 2, 2020 july 2, 2021 july 2, 2022 july 2, 2023 july 22, 2011 july 22, 2012 july 22, 2013 july 22, 2014 july 22, 2015 july 22, 2016 july 22, 2017 july 22, 2018