Condition: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
rs121908571 in
BCS1L gene and
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
PMID 19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
PMID 18628306 2008 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
PMID 22991165 2013 Clinical and biochemical features associated with BCS1L mutation.
PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
rs28937590 in
BCS1L;ZNF142 gene and
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
PMID 21274865 2011 The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
rs121908572 in
ZNF142;BCS1L gene and
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
PMID 22991165 2013 Clinical and biochemical features associated with BCS1L mutation.
PMID 18628306 2008 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
PMID 19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
PMID 12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.