Condition: Muscle Weakness Lower Limb


rs1565930588 in HSPB8 gene and Muscle Weakness Lower Limb PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

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.