Distal myopathies

Gene: HSPB8

Green List (high evidence)

Comment when marking as ready: mutations in this gene can cause a distal myopathy phenotype

Created: 20 Feb 2017, 4:29 p.m.

Mutations in HSPB8 cause distal hereditary motorneuropathy, whose phenotype can resemble distal myopathy. Recently, 2 families described with mutations in HSPB8 and distal myopathy as well as motor neuropathy (PMID:26718575)

Created: 9 Feb 2017, 2:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy

Publications

• 26718575