Nemaline myopathy and cardiomyopathy

被引：20

作者：

Skyllouriotis, ML

Marx, M

Skyllouriotis, P

Bittner, R

Wimmer, M

机构：

[1] Univ Vienna, Dept Pediat, Div Pediat Cardiol, A-1090 Vienna, Austria

[2] Univ Vienna, Dept Cardiothorac Surg, A-1090 Vienna, Austria

[3] Univ Vienna, Inst Anat, Dept 3, A-1090 Vienna, Austria

来源：

PEDIATRIC NEUROLOGY | 1999年 / 20卷 / 04期

关键词：

D O I：

10.1016/S0887-8994(98)00158-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported. (C) 1999 by Elsevier Science Inc. All rights reserved.

引用

收藏

页码：319 / 321

页数：3

相关论文

共 15 条

[1] NORMAL CARDIAC CONTRACTILITY IN PATIENTS WITH CONGENITAL NEMALINE MYOPATHY [J].

AIRENNE, AL ;

WALLGRENPETTERSSON, C .

NEUROPEDIATRICS, 1988, 19 (03) :115-117

[2]

Dubowitz V., 1973, MUSCLE BIOPSY MODERN

[3]

FONG JC, 1978, J BIOL CHEM, V253, P6917

[4] FATTY-ACID OXIDATION DISORDERS - A NEW CLASS OF METABOLIC DISEASES [J].

HALE, DE ;

BENNETT, MJ .

JOURNAL OF PEDIATRICS, 1992, 121 (01) :1-11

[5] CONGENITAL NEMALINE MYOPATHY WITH DILATED CARDIOMYOPATHY - AN AUTOPSY STUDY [J].

ISHIBASHIUEDA, H ;

IMAKITA, M ;

YUTANI, C ;

TAKAHASHI, S ;

YAZAWA, K ;

KAMIYA, T ;

NONAKA, I .

HUMAN PATHOLOGY, 1990, 21 (01) :77-82

[6] GENETICS OF CONGENITAL NEMALINE MYOPATHY [J].

KONDO, K ;

YUASA, T .

MUSCLE & NERVE, 1980, 3 (04) :308-315

[7] CLINICAL-DIAGNOSIS OF LONG-CHAIN ACYL-COENZYME A-DEHYDROGENASE DEFICIENCY - USE OF STRESS AND FAT-LOADING TESTS [J].

PARINI, R ;

GARAVAGLIA, B ;

SAUDUBRAY, JM ;

BARDELLI, P ;

MELOTTI, D ;

ZECCA, G ;

DIDONATO, S .

JOURNAL OF PEDIATRICS, 1991, 119 (01) :77-80

[8] ATYPICAL NEMALINE MYOPATHY WITH TEMPOROMANDIBULAR ANKYLOSIS [J].

POWERS, JM ;

YOUNG, GF ;

BASS, EB ;

REED, FE .

NEUROLOGY, 1980, 30 (09) :971-975

[9] CYTOCHROME-C-OXIDASE DEFICIENCY AND LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY WITH LEIGHS SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY [J].

REICHMANN, H ;

SCHEEL, H ;

BIER, B ;

KETELSEN, UP ;

ZABRANSKY, S .

ANNALS OF NEUROLOGY, 1992, 31 (01) :107-109

[10] ENZYMES OF FATTY-ACID BETA-OXIDATION IN DEVELOPING BRAIN [J].

REICHMANN, H ;

MALTESE, WA ;

DEVIVO, DC .

JOURNAL OF NEUROCHEMISTRY, 1988, 51 (02) :339-344