Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee

doi:10.1016/j.jpeds.2015.12.060

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee

School of Medicine

Research output: Contribution to journal › Article › peer-review

43 Scopus citations

Abstract

We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.

Original language	English (US)
Pages (from-to)	313-316.e2
Journal	Journal of Pediatrics
Volume	171
DOIs	https://doi.org/10.1016/j.jpeds.2015.12.060
State	Published - Apr 1 2016

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2015.12.060

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title = "Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L",

abstract = "We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.",

author = "{Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee} and Grace Yoon and Zeenat Malam and Tara Paton and Marshall, {Christian R.} and Ella Hyatt and Zhenya Ivakine and Scherer, {Stephen W.} and Lee, {Kyong Soon} and Cynthia Hawkins and Cohn, {Ronald D.}",

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AU - Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee

AU - Yoon, Grace

AU - Malam, Zeenat

AU - Paton, Tara

AU - Marshall, Christian R.

AU - Hyatt, Ella

AU - Ivakine, Zhenya

AU - Scherer, Stephen W.

AU - Lee, Kyong Soon

AU - Hawkins, Cynthia

AU - Cohn, Ronald D.

PY - 2016/4/1

Y1 - 2016/4/1

N2 - We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.

AB - We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.

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JF - Journal of Pediatrics

ER -

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Abstract

ASJC Scopus subject areas

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