HSPB8 Myopathy Library

Case studies  

1) Neurology: Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy 

Ghaoui et al, 2016 

2) Neuropathologica: HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy 

Echaniz-Laguna et al, 2017 

3) European Journal of Neurology:Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy 

Cortese et al, 2018 

4) Neurology genetics: New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy 

Al-Tahan et al, 2019 

5) A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy 

Nicolau et al., 2020  

6) A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy 

Inoue-Shibui et al., 2021 

7) A novel c.515delC HSPB8-multisystem proteinopathy associated with inclusion body myopathy with cardiomyopathy Tan et al., 2024 

Molecular pathology 

1) Authophagy: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies 

Tedesco et al, 2023