Distal hereditary motor neuropathy I (HMND1; Distal HMN I)

Overview

● Nosology Juvenile ALS Distal HMN Epidemiology: Australian family Genetics Mutation 1.35 Mb complex structural variation Intrachromosomal translocation Transcript (UBE3C-IF): Lacks 13 of 23 exons of wildtype UBE3C Effect: Dominant negative Inserted sequence fragment contains 4 protein-coding genes & their regulatory elements MNX1(HB9) NOM1 RNF32 LMBR1 Upstream regulatory elements & first 10 exons of ubiquitin-protein E3 ligase gene E3C Allelic disorder: Angelman-like syndrome, Recessive 191 UBE3C protein Ubiquitin E3 protein ligase HECT (homologous to E6-AP carboxyl 13 terminus) class of E3 l

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