Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNE-Gen

Mutationen im mitochondralen TRNE-Gen führen zu mütterlich vererbtem Diabetes mit Schwerhörigkeit.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Mitochondrialer Diabetes mellitus
TRNE
TRNK
TRNL1
TRNS2

Referenzen:

1.

Vialettes BH et. al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

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2.

Damore ME et al. () Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.

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3.

Rigoli L et al. (2001) Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family.

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4.

Perucca-Lostanlen D et al. (2002) Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.

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5.

McFarland R et al. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

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6.

Horvath R et al. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

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7.

Mimaki M et al. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study.

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8.

Uusimaa J et al. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

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9.

Hudgson P et al. (1972) Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings.

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10.

Hao H et al. (1995) Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

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11.

Hanna MG et al. (1995) Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

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