Condition: Distal Muscular Dystrophies
rs1565930588
in
HSPB8
gene and
Distal Muscular Dystrophies
PMID 29029362
2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
PMID 28501893
2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
PMID 26976520
2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.