MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
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چکیده
منابع مشابه
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Too...
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ژورنال
عنوان ژورنال: Brain
سال: 2017
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awx138