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.