Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
about
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsCardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagySpectrum of combined respiratory chain defects.Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.Evaluation and management of left ventricular noncompaction cardiomyopathy.Left Ventricular Non-compaction: Is It Genetic?Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency.
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Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 30 January 2013
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Left ventricular noncompaction ...... e specific for Barth syndrome.
@en
Left ventricular noncompaction
@nl
type
label
Left ventricular noncompaction ...... e specific for Barth syndrome.
@en
Left ventricular noncompaction
@nl
prefLabel
Left ventricular noncompaction ...... e specific for Barth syndrome.
@en
Left ventricular noncompaction
@nl
P2860
P50
P1476
Left ventricular noncompaction ...... re specific for Barth syndrome
@en
P2093
Katarzyna Kokoszynska
Weronika Jaron
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P2888
P304
P356
10.1007/S10545-013-9584-4
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P577
2013-01-30T00:00:00Z