A MANIFESTING CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY WITH SEVERE MYOCARDIAL SYMPTOMS

被引：34

作者：

KAMAKURA, K

KAWAI, M

ARAHATA, K

KOIZUMI, H

WATANABE, K

SUGITA, H

机构：

[1] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV NEUROMUSCULAR RES,TOKYO,JAPAN

[2] TOKYO TEISHIN HOSP,TOKYO,JAPAN

[3] UNIV TOKYO,INST BRAIN RES,DEPT NEUROL,TOKYO 113,JAPAN

来源：

JOURNAL OF NEUROLOGY | 1990年 / 237卷 / 08期

关键词：

DUCHENNE MUSCULAR DYSTROPHY; MANIFESTING CARRIER; CARDIOMYOPATHY; DYSTROPHIN;

D O I：

10.1007/BF00314767

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 42-year-old so-called manifesting carrier of Duchenne muscular dystrophy (DMD), whose first complaints were severe myocardial symptoms, is described. Immunohistochemical study using anti-dystrophin antiserum and analysis of cloned segments of X chromosome DNA were performed. Her two sons and one of her brothers appear to have had the same disease. She was admitted to hospital complaining of dyspnoea, back pain and palpitations and was first diagnosed as having myocardial infarction. However, this diagnosis was excluded. The echocardiogram showed diffuse abnormalities of myocardial function. Serum enzymes were increased. Minimal weakness and decreased deep tendon reflexes were detected in her left lower extremity. Muscle biopsy revealed a small number of necrotic fibres. Immunohistochemical study using anti-dystrophin antiserum showed a mosaic pattern of the surface membrane. Analysis of cloned segments of X chromosome DNA from the patient and her son showed the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8 in both patients.

引用

页码：483 / 485

页数：3

共 14 条

[1] MOSAIC EXPRESSION OF DYSTROPHIN IN SYMPTOMATIC CARRIERS OF DUCHENNES MUSCULAR-DYSTROPHY [J].

ARAHATA, K ;

ISHIHARA, T ;

KAMAKURA, K ;

TSUKAHARA, T ;

ISHIURA, S ;

BABA, C ;

MATSUMOTO, T ;

NONAKA, I ;

SUGITA, H .

NEW ENGLAND JOURNAL OF MEDICINE, 1989, 320 (03) :138-142

[2] GENETIC-LINKAGE RELATIONSHIPS OF 7 DNA PROBES WITH DUCHENNE AND BECKER MUSCULAR-DYSTROPHY [J].

BROWN, CS ;

THOMAS, NST ;

SARFARAZI, M ;

DAVIES, KE ;

KUNKEL, L ;

PEARSON, PL ;

KINGSTON, HM ;

SHAW, DJ ;

HARPER, PS .

HUMAN GENETICS, 1985, 71 (01) :62-74

[3]

CAVANAGH NPC, 1981, CLIN GENET, V20, P168

[4] THE FEMALE CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY [J].

DUBOWITZ, V .

BRITISH MEDICAL JOURNAL, 1982, 284 (6327) :1423-1424

[5] ABNORMALITIES OF ELECTROCARDIOGRAM IN FEMALE CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY [J].

EMERY, AEH .

BMJ-BRITISH MEDICAL JOURNAL, 1969, 2 (5654) :418-+

[6] ANALYSIS OF DELETIONS IN DNA FROM PATIENTS WITH BECKER AND DUCHENNE MUSCULAR-DYSTROPHY [J].

KUNKEL, LM ;

HEJTMANCIK, JF ;

CASKEY, CT ;

SPEER, A ;

MONACO, AP ;

MIDDLESWORTH, W ;

COLLETTI, CA ;

BERTELSON, C ;

MULLER, U ;

BRESAN, M ;

SHAPIRO, F ;

TANTRAVAHI, U ;

SPEER, J ;

LATT, SA ;

BARTLETT, R ;

PERICAK-VANCE, MA ;

ROSES, AD ;

THOMPSON, WV ;

RAY, PN ;

WORTON, RG ;

FISCHBECK, KH ;

GALLANO, P ;

COULON, M ;

DUROS, C ;

BOUE, J ;

JUNIEN, C ;

CHELLY, J ;

HAMARD, G ;

JEANPIERRE, M ;

LAMBERT, M ;

KAPLAN, JC ;

EMERY, A ;

DORKINS, H ;

McGLADE, S ;

DAVIES, KE ;

BOEHM, C ;

ARVEILER, B ;

LEMAIRE, C ;

MORGAN, GJ ;

DENTON, MJ ;

AMOS, J ;

BOBROW, M ;

BENHAM, F ;

BOSWINKEL, E ;

COLE, C ;

DUBOWITZ, V ;

HART, K ;

HODGSON, S ;

JOHNSON, L ;

WALKER, A .

NATURE, 1986, 322 (6074) :73-77

[7]

Kurahashi M, 1989, Nihon Naika Gakkai Zasshi, V78, P655

[8] ELECTROCARDIOGRAPHIC STUDIES IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY [J].

LUKASIK, E .

JOURNAL OF NEUROLOGY, 1975, 209 (04) :279-285

[9]

LYON MF, 1962, AM J HUM GENET, V14, P135

[10] ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE [J].

MONACO, AP ;

NEVE, RL ;

COLLETTIFEENER, C ;

BERTELSON, CJ ;

KURNIT, DM ;

KUNKEL, LM .

NATURE, 1986, 323 (6089) :646-650

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