» Articles » PMID: 19307547

Fatal Congenital Myopathy and Gastrointestinal Pseudo-obstruction Due to POLG1 Mutations

Overview
Journal Neurology
Specialty Neurology
Date 2009 Mar 25
PMID 19307547
Citations 14
Authors
Affiliations
Soon will be listed here.
Citing Articles

Magnesium (Mg): Essential Mineral for Neuronal Health: From Cellular Biochemistry to Cognitive Health and Behavior Regulation.

Kumar A, Mehan S, Tiwari A, Khan Z, Gupta G, Narula A Curr Pharm Des. 2024; 30(39):3074-3107.

PMID: 39253923 DOI: 10.2174/0113816128321466240816075041.


Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.

Zada A, Kuil L, de Graaf B, Kakiailatu N, Windster J, Brooks A Front Cell Dev Biol. 2022; 10:901824.

PMID: 35874825 PMC: 9304996. DOI: 10.3389/fcell.2022.901824.


Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Chakravorty S, Logan R, Elson M, Luke R, Verma S Sci Rep. 2020; 10(1):16184.

PMID: 32999401 PMC: 7528082. DOI: 10.1038/s41598-020-73219-5.


Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.

Gamboa H, Sood M Curr Gastroenterol Rep. 2019; 21(12):70.

PMID: 31848803 DOI: 10.1007/s11894-019-0737-y.


Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics.

Piche J, Gosset N, Legault L, Pacis A, Oneglia A, Caron M Cell Mol Gastroenterol Hepatol. 2019; 7(2):411-431.

PMID: 30739867 PMC: 6369230. DOI: 10.1016/j.jcmgh.2018.10.011.


References
1.
Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino M . Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol. 2008; 173(4):1120-8. PMC: 2543079. DOI: 10.2353/ajpath.2008.080252. View

2.
de Vries M, Rodenburg R, Morava E, van Kaauwen E, Ter Laak H, Mullaart R . Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr. 2006; 166(3):229-34. DOI: 10.1007/s00431-006-0234-9. View

3.
Hudson G, Chinnery P . Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet. 2006; 15 Spec No 2:R244-52. DOI: 10.1093/hmg/ddl233. View

4.
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E . Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain. 2006; 129(Pt 7):1674-84. DOI: 10.1093/brain/awl088. View

5.
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F . Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain. 2005; 128(Pt 4):723-31. DOI: 10.1093/brain/awh410. View