Premium
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
Author(s) -
Irobi Joy,
Nelis Eva,
Verhoeven Kristien,
De Vriendt Els,
Dierick Ines,
De Jonghe Peter,
Van Broeckhoven Christine,
Timmerman Vincent
Publication year - 2002
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2002.02014.x
Subject(s) - biology , genetics , candidate gene , homeobox , gene , microbiology and biotechnology , transcription factor
Distal hereditary motor neuropathies (distal HMNs) are characterized by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by D12S86 and D12S340. We previously excluded 5 positional and functional candidate genes for distal HMN II. Here, we report the exclusion of 12 additional candidate genes localized within the distal HMN II region; the genes include musashi (Drosophila) homolog 1 (MSI1) , protein inhibitor of neuronal nitric oxide synthase (PIN) , peripherin (PRPH) , tubulin alpha ubiquitous (K‐ALPHA‐1) , tubulin alpha 3 (TUBA3) , tubulin alpha 6 (TUBA6) , splicing factor arginine/serine‐rich 9 (SFRS9), U5 snRNP 100 kd (U5‐100K), putative chemokine receptor, GTP‐binding protein (HM74), MondoA, cut (Drosophila)‐like homeobox 2 (CUX2) and ADP‐ribosylation factor 3 (ARF3).