Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES

0

POPDC1, the protein product of the BVES gene, is predominantly expressed in striated muscles, highest in skeletal muscles [1]. BVES variants are associated with limb-girdle muscular dystrophy autosomal recessive 25 (LGMDR25), characterized by slowly progressive muscular dystrophy and stress-induced atrioventricular (AV) block [2, 3]. Mutant zebrafish in which BVES has been knocked down display muscle fiber disorganization. They also have lower cyclic adenosine 3’,5’-monophosphate binding ability than wildtype counterparts, resulting in TREK-1 current modulation disturbance [2].

Read More...

Leave A Reply