A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

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A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

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2017 nî lūn-bûn

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A commentary on homozygous p.

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A commentary on homozygous p.( ...... ondrial dysfunctions syndrome.

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A commentary on homozygous p.

@nl

A commentary on homozygous p.( ...... ondrial dysfunctions syndrome.

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A commentary on homozygous p.

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A commentary on homozygous p.( ...... ondrial dysfunctions syndrome.

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P1476

A commentary on homozygous p.( ...... ondrial dysfunctions syndrome.

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P2093

Josef Finsterer

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P2860

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

POLG1 mutations associated with progressive encephalopathy in childhood.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

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jhg.2017.64

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865-866

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scholarly article

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10.1038/JHG.2017.64

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P433

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Sinda Zarrouk Mahjoub

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2017-06-15T00:00:00Z

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P698

28615675

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P921

fatal multiple mitochondrial dysfunctions syndrome