HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons
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چکیده
منابع مشابه
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.
Leber hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy which is caused by point mutations in the mitochondrial genome (mtDNA). Three pathogenic mutations (positions 11778/ND4, 3460/ND1 and 14484/ND6) account for the majority of LHON cases and they affect genes that encode for different subunits of mitochondrial comp...
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Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of disorders characterized by weakness and wasting of distal limb muscles without overt sensory abnormalities. Recently, autosomal dominant dHMN has been mapped to chromosome 12q24 and 7q11-q21. We present a family with autosomal dominant adult onset dHMN type II consisting of fi ve affected individuals spanning three generation...
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We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve c...
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ژورنال
عنوان ژورنال: Experimental Neurology
سال: 2017
ISSN: 0014-4886
DOI: 10.1016/j.expneurol.2017.08.002