Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

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Renal manifestations of primary mitochondrial disorders.Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.

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Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Compound heterozygous RMND1 ge ...... cal involvement: a case report

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Asheeta Gupta

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David V Milford

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Emma L Blakely

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Julie Vogt

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Langping He

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Nicola K Ragge

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Robert W Taylor

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P2860

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

Genetic features of mitochondrial respiratory chain disorders.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Renal function and mitochondrial cytopathy (MC): more questions than answers?

Renal manifestations of genetic mitochondrial disease.

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scholarly article

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10.1186/S13104-016-2131-2

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Isabel Colmenero

Robert McFarland

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2016-06-27T00:00:00Z

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Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

about

P2860

P2860

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

description

name

type

label

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P1433

P1476

P2093

P2860

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P31

P356

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P1476

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P2860

P2888

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P478

P50

P577

P6179

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P932