Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene-Reference-Cited by-同舟云学术

Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene

Published:2017-12 Issue: Volume:13 Page:31-32
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Finsterer Josef,Zarrouk-Mahjoub Sinda^ORCID

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference6 articles.

1. Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation;Fragaki;Mol. Genet. Metab.,2017

2. Lethal neonatal progression of fetal cardiomegaly associated to ACAD9 deficiency;Lagoutte-Renosi;JIMD Rep.,2015

3. An atypical presentation of ACAD9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach;Aintablian;Mol. Genet. Metab.,2016

4. Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients;Dewulf;Mol. Genet. Metab.,2016

5. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood;Collet;Eur. J. Hum. Genet.,2016

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