Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis. - Wikidata - wikimedia - TriplyDB

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

http://www.wikidata.org/entity/Q34268739

about

Genetics Underlying an Individualized Approach to Adult Spinal Disorders Axial myopathy: an overlooked feature of muscle diseases.Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons.Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

P2860

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P2860

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

http://www.wikidata.org/entity/Q34268739

description

2014 nî lūn-bûn

@nan

2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@ast

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@en

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@nl

type

label

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@ast

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@en

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@nl

prefLabel

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@ast

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@en

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@nl

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P1433

Acta neuropathologica communications

P1476

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

@en

P2093

Adekunle M Adesina

http://www.w3.org/2001/XMLSchema#string

Annie Hiniker

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Cavatina K Truong

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Lee-Jun Wong

http://www.w3.org/2001/XMLSchema#string

Sigurd Berven

http://www.w3.org/2001/XMLSchema#string

P2860

Quantitative evaluation of the mitochondrial DNA depletion syndrome

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

Camptocormia: the bent spine syndrome, an update.

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson's disease.

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.

Camptocormia as a clinical manifestation of mitochondrial myopathy.

Biochemical assays of respiratory chain complex activity.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

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10.1186/S40478-014-0137-3

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2

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2014-09-16T00:00:00Z

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