Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Level V
Where this comes from
- Record sourced from PubMed, PMID 28969372.
- Also identified by DOI 10.1093/brain/awx187.
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Abstract
Small heat shock proteins are molecular chaperones that exert diverse cellular functions. To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and biology of small heat shock protein mutations in neuromuscular diseases.
Medical subject headings
- HSP27 Heat-Shock Proteins
- Heat-Shock Proteins
- Mutation
- Neuromuscular Diseases
- Protein Serine-Threonine Kinases