Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.

Item
http://www.wikidata.org/entity/Q34018796
Diagnosis and management of MELAS.A unique junctional palindromic sequence in mitochondrial DNA from a patient with progressive external ophthalmoplegia.SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.The polymerase chain reaction and its applications in neuropathology.Disease progression in patients with single, large-scale mitochondrial DNA deletions.Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.Myopathology of Adult and Paediatric Mitochondrial Diseases.Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation.Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.A new congenital muscular dystrophy with mitochondrial structural abnormalities.
P2860

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.

Item
http://www.wikidata.org/entity/Q34018796
description
1990 nî lūn-bûn
@nan
1990 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Chronic progressive external o ...... expression in muscle biopsies.
@ast
Chronic progressive external o ...... expression in muscle biopsies.
@en
Chronic progressive external o ...... expression in muscle biopsies.
@nl
type
label
Chronic progressive external o ...... expression in muscle biopsies.
@ast
Chronic progressive external o ...... expression in muscle biopsies.
@en
Chronic progressive external o ...... expression in muscle biopsies.
@nl
prefLabel
Chronic progressive external o ...... expression in muscle biopsies.
@ast
Chronic progressive external o ...... expression in muscle biopsies.
@en
Chronic progressive external o ...... expression in muscle biopsies.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Chronic progressive external o ...... expression in muscle biopsies.
@en
P2093
P304
P31
P356
10.1016/0022-510X(90)90014-E
P433
P478
P577
P698
P921