Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.

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Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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name

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

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Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

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Item

label

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

@en

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

@nl

prefLabel

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

@en

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

@nl

P1476

Expanding the Phenotype of the ...... ding Mitochondrial RMND1 Gene.

@en

P2093

Ishwar C Verma

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Kanav Anand

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N Vinu

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P2860

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

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

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

The transmission of OXPHOS disease and methods to prevent this.

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

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Mechanisms of mitochondrial diseases.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

P2888

s12098-017-2515-x

P304

87-92

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scholarly article

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10.1007/S12098-017-2515-X

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P433

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P478

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Ratna D Puri

P577

2017-10-26T00:00:00Z

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P698

29071585

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