Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

Fredoen Valianpour; Ronald J. A. Wanders; Henk Overmars; Peter Vreken; Albert H. van Gennip; Frank Baas; Barbara Plecko; Rene Santer; Kolja Becker; Peter G. Barth

doi:10.1067/mpd.2002.129174

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

Fredoen Valianpour
, Ronald J. A. Wanders
, Henk Overmars
, Peter Vreken
, Albert H. van Gennip
, Frank Baas
, Barbara Plecko
, Rene Santer
, Kolja Becker
, Peter G. Barth

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder

Original language	English
Pages (from-to)	729-733
Journal	Journal of pediatrics
Volume	141
Issue number	5
DOIs	https://doi.org/10.1067/mpd.2002.129174
Publication status	Published - 2002

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Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., van Gennip, A. H., Baas, F., Plecko, B., Santer, R., Becker, K., & Barth, P. G. (2002). Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. Journal of pediatrics, 141(5), 729-733. https://doi.org/10.1067/mpd.2002.129174

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title = "Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts",

abstract = "We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder",

author = "Fredoen Valianpour and Wanders, \{Ronald J. A.\} and Henk Overmars and Peter Vreken and \{van Gennip\}, \{Albert H.\} and Frank Baas and Barbara Plecko and Rene Santer and Kolja Becker and Barth, \{Peter G.\}",

year = "2002",

doi = "10.1067/mpd.2002.129174",

language = "English",

volume = "141",

pages = "729--733",

journal = "Journal of pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

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TY - JOUR

T1 - Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

AU - Valianpour, Fredoen

AU - Wanders, Ronald J. A.

AU - Overmars, Henk

AU - Vreken, Peter

AU - van Gennip, Albert H.

AU - Baas, Frank

AU - Plecko, Barbara

AU - Santer, Rene

AU - Becker, Kolja

AU - Barth, Peter G.

PY - 2002

Y1 - 2002

N2 - We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder

AB - We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder

U2 - 10.1067/mpd.2002.129174

DO - 10.1067/mpd.2002.129174

M3 - Article

C2 - 12410207

SN - 0022-3476

VL - 141

SP - 729

EP - 733

JO - Journal of pediatrics

JF - Journal of pediatrics

IS - 5

ER -

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

Abstract

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