Article
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Journal of the peripheral nervous system : JPNS - 1 Mar 2017
Piscosquito Giuseppe, Magri Stefania, Saveri Paola, Milani Micaela, Ciano Claudia, Farina Laura, Taroni Franco, Pareyson Davide
Abstract excerpt
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast...
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