MITOCHONDRIAL MYOPATHY WITH A DEFICIENCY OF RESPIRATORY-CHAIN NADH-COQ REDUCTASE-ACTIVITY

被引:115
作者
MORGANHUGHES, JA [1 ]
DARVENIZA, P [1 ]
LANDON, DN [1 ]
LAND, JM [1 ]
CLARK, JB [1 ]
机构
[1] ST BARTHOLOMEWS HOSP,SCH MED,DEPT BIOCHEM,LONDON EC1,ENGLAND
关键词
D O I
10.1016/0022-510X(79)90071-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:27 / 46
页数:20
相关论文
共 55 条
[1]  
ASMUSSEN E, 1965, HDB PHYSL 3, P966
[2]   DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].
BANK, WJ ;
DIMAURO, S ;
BONILLA, E ;
CAPUZZI, DM ;
ROWLAND, LP .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) :443-449
[3]  
BERGMEYER HU, 1974, METHOD ENZYMAT AN, V1, P158
[4]   CLINICAL STUDIES OF A PATIENT WITH PYRUVATE DECARBOXYLASE DEFICIENCY [J].
BLASS, JP ;
KARK, RAP ;
ENGEL, WK .
ARCHIVES OF NEUROLOGY, 1971, 25 (05) :449-&
[5]   INHERITED DEFECT AFFECTING TRICARBOXYLIC ACID CYCLE IN A PATIENT WITH CONGENITAL LACTIC ACIDOSIS [J].
BLASS, JP ;
SCHULMAN, JD ;
YOUNG, DS ;
HOM, E .
JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (07) :1845-&
[6]  
BOOKELMAN H, 1978, PYRUVATE METABOLISM
[7]   FURTHER-STUDIES OF MITOCHONDRIAL AND LIPID STORAGE MYOPATHIES [J].
BRADLEY, WG ;
TOMLINSON, BE ;
HARDY, M .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1978, 35 (2-3) :201-210
[8]   NEW MYOPATHY WITH MITOCHONDRIAL ENZYME HYPERACTIVITY - HISTOCHEMICAL DEMONSTRATION [J].
COLEMAN, RF ;
NIENHUIS, AW ;
BROWN, WJ ;
MUNSAT, TL ;
PEARSON, CM .
JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1967, 199 (09) :624-&
[9]   FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY [J].
CORNELIO, F ;
DIDONATO, S ;
PELUCHETTI, D ;
BIZZI, A ;
BERTAGNOLIO, B ;
DANGELO, A ;
WIESMANN, U .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (02) :170-178
[10]   CARNITINE-PALMITYL-TRANSFERASE DEFICIENCY [J].
CUMMING, WJK ;
HARDY, M ;
HUDGSON, P ;
WALLS, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :247-258