Article
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
Neuromuscular disorders : NMD - 1 May 2012
Lim Young-Min, Koh Insong, Park Young-Mi, Kim Jae-Jung, Kim Dae-Seong, Kim Hyo-Jin, Baik Kyu-Heum, Choi Hye-Yeon, Yang Gap-Seok, Also-Rallo Eva, Tizzano Eduardo F, Gamez Josep, Park Kiejung, Yoo Han-Wook, Lee Jong-Keuk, Kim Kwang-Kuk
Abstract excerpt
Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify susceptibility genes for monomelic amyotrophy, we performed whole-exome sequencing of four unrelated patients with monomelic amyotrophy and detected a total of 45 novel nonsynonymous single-nucleotide polymorphisms as unique...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.