Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh...

Por Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello
Publicado em 2020-09-01

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Por Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton
Publicado em 2016-11-01