期刊
BRAIN
卷 140, 期 -, 页码 2541-2549出版社
OXFORD UNIV PRESS
DOI: 10.1093/brain/awx187
关键词
hereditary motor and sensory neuropathies; amyotrophic lateral sclerosis; genetics; neurodegeneration; myopathy
资金
- University of Antwerp
- Fund for Scientific Research (FWO-Flanders)
- Medical Foundation Queen Elisabeth (GSKE)
- Association Belge contre les Maladies Neuromusculaires (ABMM)
- American Muscular Dystrophy Association (MDA)
- EC 7th Framework Programme [2012-305121]
- Integrated European-omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)
- FWO-Flanders
- Senior Clinical Researcher mandate of the Research Fund - Flanders (FWO)
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-MarieTooth 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.
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