ISOLATED MANIFESTING CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY

被引：0

作者：

PADMA, MV ^{[1
]}

JAIN, S ^{[1
]}

SARKAR, C ^{[1
]}

MAHESHWARI, MC ^{[1
]}

机构：

[1] ALL INDIA INST MED SCI,DEPT NEUROL & NEUROPATHOL,NEW DELHI 110029,INDIA

来源：

NEUROLOGY INDIA | 1995年 / 43卷 / 01期

关键词：

MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHINOPATHY; MANIFESTING CARRIER;

D O I：

暂无

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A manifesting female carrier of Duchenne muscular dystrophy (DMD) with no prior family history of DMD is described. She presented with proximal muscle weakness, enlarged calf muscles and an elevated serum creatine phospokinase (CPK). Histological myopathic changes and immunoperoxidase examination for dystrophy in muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosis of DMD in a manifesting female carrier.

引用

页码：42 / 44

页数：3

共 7 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] DYSTROPHINOPATHY IN ISOLATED CASES OF MYOPATHY IN FEMALES [J].

HOFFMAN, EP ;

ARAHATA, K ;

MINETTI, C ;

BONILLA, E ;

ROWLAND, LP ;

ANGELINI, C ;

ARIKAWA, E ;

BABA, C ;

BARKHAUS, PE ;

BAUSERMAN, SC ;

BUTLER, IJ ;

COOK, JD ;

CHUTKOW, JG ;

CORDONE, G ;

EVANS, OB ;

FIDZIANSKA, A ;

GARCIA, C ;

GILCHRIST, JM ;

GLASBERG, M ;

HAMADA, K ;

ISHIHARA, T ;

ISHIKAWA, N ;

JOHNSEN, SD ;

KAMAKURA, K ;

KIKUMOTO, O ;

KINOSHITA, M ;

KUMAGAI, K ;

MARKS, H ;

MARKS, W ;

MAYTAL, J ;

MOGGIO, M ;

MOSER, E ;

NIGRO, MA ;

NOLL, W ;

NONAKA, I ;

PRELLE, A ;

REYES, MG ;

RICCI, E ;

ROSES, AD ;

SAKUTA, R ;

SATOYOSHI, E ;

SERVIDEI, S ;

SMITH, A ;

STEELE, M ;

SUBRAMONY, SH ;

SUNOHARA, N ;

WANG, JZ ;

WESSEL, HB ;

YANAGAWA, T ;

MUNSAT, T .

NEUROLOGY, 1992, 42 (05) :967-975

[3] DYSTROPHIN DEFICIENCY IN YOUNG GIRLS WITH SPORADIC MYOPATHY AND NORMAL KARYOTYPE [J].

MINETTI, C ;

CHANG, HW ;

MEDORI, R ;

PRELLE, A ;

MOGGIO, M ;

JOHNSEN, SD ;

BONILLA, E .

NEUROLOGY, 1991, 41 (08) :1288-1292

[4]

NORMAN A M, 1989, Archives of Disease in Childhood, V64, P1501

[5]

ROWLAND LP, 1988, BRAIN, V3, P479

[6]

SHIGIHARAYASUDA K, 1991, EUROPEAN J PEDIAT, V151, P66

[7]

YOSHIOKA M, 1981, CLIN GENET, V20, P6

← 1 →