X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) - MIM 302060

被引：46

作者：

Barth, PG ^{[3
]}

Wanders, RJA

Vreken, P

机构：

[1] Univ Amsterdam, Emma Childrens hosp, Dept Neurol, NL-1100 DE Amsterdam, Netherlands

[2] Univ Amsterdam, Emma Childrens Hosp, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands

[3] Univ Amsterdam, Emma Childrens Hosp, Dept Pediat, NL-1100 DE Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, NL-1100 DE Amsterdam, Netherlands

来源：

JOURNAL OF PEDIATRICS | 1999年 / 135卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(99)70118-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：273 / 276

页数：4

共 20 条

[1] BARTH SYNDROME - CLINICAL-FEATURES AND CONFIRMATION OF GENE LOCALIZATION TO DISTAL XQ28 [J].

ADES, LC ;

GEDEON, AK ;

WILSON, MJ ;

LATHAM, M ;

PARTINGTON, MW ;

MULLEY, JC ;

NELSON, J ;

LUI, K ;

SILLENCE, DO .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03) :327-334

[2] HEART-TRANSPLANTATION FOR DILATED CARDIOMYOPATHY [J].

ADWANI, SS ;

WHITEHEAD, BF ;

REES, PG ;

WHITMORE, P ;

FABRE, JW ;

ELLIOTT, MJ ;

DELEVAL, MR .

ARCHIVES OF DISEASE IN CHILDHOOD, 1995, 73 (05) :447-452

[3] AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES [J].

BARTH, PG ;

SCHOLTE, HR ;

BERDEN, JA ;

VANDERKLEIVANMOORSEL, JM ;

LUYTHOUWEN, IEM ;

VANTVEERKORTHOF, ET ;

VANDERHARTEN, JJ ;

SOBOTKAPLOJHAR, MA .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 62 (1-3) :327-355

[4] X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts [J].

Barth, PG ;

VandenBogert, C ;

Bolhuis, PA ;

Scholte, HR ;

vanGennip, AH ;

Schutgens, RBH ;

Ketel, AG .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) :157-160

[5] A novel X-linked gene, G4.5. is responsible for Barth syndrome [J].

Bione, S ;

DAdamo, P ;

Maestrini, E ;

Gedeon, AK ;

Bolhuis, PA ;

Toniolo, D .

NATURE GENETICS, 1996, 12 (04) :385-389

[6]

Bleyl SB, 1997, AM J MED GENET, V72, P257, DOI 10.1002/(SICI)1096-8628(19971031)72:3<257::AID-AJMG2>3.0.CO

[7]

2-O

[8] Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth Syndrome [J].

Bleyl, SB ;

Mumford, BR ;

Thompson, V ;

Carey, JC ;

Pysher, TJ ;

Chin, TK ;

Ward, K .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) :868-872

[9]

BOLHUIS PA, 1991, AM J HUM GENET, V48, P481

[10] Genetic analysis of the G4.5 gene in families with suspected Barth syndrome [J].

Cantlay, AM ;

Shokrollahi, K ;

Allen, JT ;

Lunt, PW ;

Newbury-Ecob, RA ;

Steward, CG .

JOURNAL OF PEDIATRICS, 1999, 135 (03) :311-315

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