Article
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
American journal of medical genetics. Part A - 1 Jun 2016
Sheffer Ruth, Douiev Liza, Edvardson Simon, Shaag Avraham, Tamimi Khaled, Soiferman Devorah, Meiner Vardiella, Saada Ann
Abstract excerpt
An emerging class of mitochondrial disorders is caused by mutations in nuclear genes affecting mitochondrial dynamics and function. One of these is the DNM1L gene encoding the dynamin-related protein 1 (DRP1), which is pivotal in the mitochondrial fission process. Here, we describe a patient with a novel dominant-negative, de novo DNM1L mutation, which expands the clinical spectrum. The patient reported here...
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