Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

被引：12

作者：

Tosserams, Anouk ^{[1
]}

Papadopoulos, Constantinos ^{[2
]}

Jardel, Claude ^{[3
,4
,8
,9
]}

Lemiere, Isabelle ^{[3
,4
,8
,9
]}

Romero, Norma B. ^{[5
]}

De Lonlay, Pascale ^{[6
]}

Wahbi, Karim ^{[2
]}

Voermans, Nicol ^{[1
]}

Hogrel, Jean-Yves ^{[7
]}

Laforet, Pascal ^{[2
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Ctr Cognit Neurosci,Dept Neurol, POB 9101, NL-6500 HB Nijmegen, Netherlands

[2] Hop La Pitie Salpetriere, Paris Est Neuromuscular Ctr, Paris, France

[3] GHU Pitie Salpetriere, AP HP, Biochem Dept, Paris, France

[4] GHU Pitie Salpetriere, AP HP, Genet Ctr, Paris, France

[5] GHU La Pitie Salpetriere, Inst Myol, Unit Neuromuscular Morphol, Paris, France

[6] Univ Paris 05, Hop Necker Enfants Malad, AP HP, Ctr Inherited Metab Dis, Paris, France

[7] Hop La Pitie Salpetriere, Inst Myol, F-75651 Paris 13, France

[8] INSERM, CNRS, Inst Cochin, U 1016,UMR 8104, Paris, France

[9] Univ Paris 06, UPMC Neurometab, GRC, Paris, France

来源：

MITOCHONDRION | 2018年 / 39卷

关键词：

SLC25A4; ANT1; Exercise intolerance; Cardiomyopathy; Mitochondrial myopathy; ADENINE-NUCLEOTIDE TRANSLOCATOR; EXPRESSION; GENE;

D O I：

10.1016/j.mito.2017.08.009

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We report the clinical, morphological and molecular features of two patients with autosomal recessive SLC25A4 (ANTI) gene mutations. Furthermore, all previously published cases are reviewed to identify valuable features for future diagnosis. Patients present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. Muscle biopsies show wide sub-sarcolemmal mitochondria' aggregates, and increased activities of all respiratory chain complexes. The phenotype of recessive SLC25A4 (ANTI) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular analysis in adults with exercise intolerance associated with hyperlactatemia.

引用

页码：26 / 29

页数：4

共 1 条

[1] Waardenburg Syndrome Type 4: Report of Two New Cases Caused by SOX10 Mutations in Spain
Fernandez, Raquel M.
Nunez-Ramos, Raquel
Valle Enguix-Riego, Ma
Jose Roman-Rodriguez, Francisco
Galan-Gomez, Enrique
Blesa-Sanchez, Emilio
Antinolo, Guillermo
Nunez-Nunez, Ramon
Borrego, Salud
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (02) : 542 - 547

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