Condition: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
rs207459998
in
CYTB;ND6
gene and
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
PMID 10502593
1999 Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
PMID 11464242
2001 Functional characterization of novel mutations in the human cytochrome b gene.
rs267606615
in
ND4;COX3;ATP6;ND3;ND4L
gene and
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
PMID 12414820
2002 Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
rs207459997
in
ND6;CYTB
gene and
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
PMID 8988236
1996 Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation.
PMID 8910895
1996 A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
PMID 11601507
2001 Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.