Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies
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چکیده
منابع مشابه
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) w...
متن کاملInherited peripheral neuropathies.
Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies, also known as Charcot-Marie-Tooth disease (CMT). More than 40 different genes have been shown to cause inherited neuropathies; chromosomal localizations of many other distinct inherited neuropathies have been mapped, and new genetic causes for inherited neuropathies co...
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ژورنال
عنوان ژورنال: Brain
سال: 2015
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awv158