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.
rs63750687 in
PSEN1 gene and
Muscle Weakness Lower Limb
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
rs387906905 in
TRPV4 gene and
Muscle Weakness Lower Limb
PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.