(Q53151719)

11 May 2018

title

Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures? (English)

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11 May 2018

author name string

Yael Wilnai

series ordinal

1

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11 May 2018

Laurie H Seaver

series ordinal

2

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11 May 2018

Gregory M Enns

series ordinal

3

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11 May 2018

language of work or name

English

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publication date

7 August 2012

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11 May 2018

American Journal of Medical Genetics

published in

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11 May 2018

volume

158A

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11 May 2018

issue

9

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11 May 2018

page(s)

2353-2357

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11 May 2018

Pontocerebellar hypoplasia associated with respiratory-chain defects

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1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Mitochondrial respiratory dysfunction and oxidative stress after chronic malathion exposure

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Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

21 January 2018

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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Leigh and Leigh-like syndrome in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Malignant hyperthermia susceptibility in a patient with mitochondrial disorder

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Teratogens associated with congenital contractures in humans and in animals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Amyoplasia congenita-like condition and maternal malathion exposure.

21 January 2018

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Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35533

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Human cytochrome oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

21 January 2018

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The epidemiology of mitochondrial disorders--past, present and future

21 January 2018

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Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Antenatal manifestations of mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Arthrogryposis Multiplex Congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

Part I. Amyoplasia: A common, sporadic condition with congenital contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35533

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35533

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11 May 2018

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11 May 2018