Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice
نویسندگان
چکیده
منابع مشابه
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
OBJECTIVE To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein ...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2012
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2012.03.035