MCARDLES DISEASE IN 2 GENERATIONS - AUTOSOMAL RECESSIVE TRANSMISSION WITH MANIFESTING HETEROZYGOTE

被引：37

作者：

SCHMIDT, B

SERVIDEI, S

GABBAI, AA

SILVA, AC

DEOLIVEIRA, ADB

DIMAURO, S

机构：

[1] COLUMBIA UNIV COLL PHYS & SURG,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY & RELATED DIS,NEW YORK,NY 10032

[2] ESCOLA PAULISTA MED,BR-04023 SAO PAULO,SP,BRAZIL

来源：

NEUROLOGY | 1987年 / 37卷 / 09期

关键词：

D O I：

10.1212/WNL.37.9.1558

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1558 / 1561

页数：4

共 13 条

[1]

ANDERSON L, 1986, MUSCLE NERVE, V9, P232

[2]

BANK WJ, 1973, T AM NEUROL ASS, V97, P179

[3] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J].

BRESOLIN, N ;

ZEVIANI, M ;

BONILLA, E ;

MILLER, RH ;

LEECH, RW ;

SHANSKE, S ;

NAKAGAWA, M ;

DIMAURO, S .

NEUROLOGY, 1985, 35 (06) :802-812

[4] DOMINANT INHERITANCE OF MCARDLE SYNDROME [J].

CHUI, LA ;

MUNSAT, TL .

ARCHIVES OF NEUROLOGY, 1976, 33 (09) :636-641

[5] MYOPHOSPHORYLASE DEFICIENCY (MCARDLES DISEASE) IN 2 INTERRELATED FAMILIES [J].

COCHRANE, P ;

HUGHES, RR ;

BUXTON, PH ;

YORKE, RA .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1973, 36 (02) :217-224

[6] DEBRANCHER DEFICIENCY - NEUROMUSCULAR DISORDER IN 5 ADULTS [J].

DIMAURO, S ;

HARTWIG, GB ;

HAYS, A ;

EASTWOOD, AB ;

FRANCO, R ;

OLARTE, M ;

CHANG, M ;

ROSES, AD ;

FETELL, M ;

SCHOENFELDT, RS ;

STERN, LZ .

ANNALS OF NEUROLOGY, 1979, 5 (05) :422-436

[7] MCARDLE DISEASE - MYSTERY OF REAPPEARING PHOSPHORYLASE ACTIVITY IN MUSCLE CULTURE - FETAL ISOENZYME [J].

DIMAURO, S ;

ARNOLD, S ;

MIRANDA, A ;

ROWLAND, LP .

ANNALS OF NEUROLOGY, 1978, 3 (01) :60-66

[8]

DIMAURO S, 1986, MYOLOGY, V2, P1585

[9] CLEAVAGE OF STRUCTURAL PROTEINS DURING ASSEMBLY OF HEAD OF BACTERIOPHAGE-T4 [J].

LAEMMLI, UK .

NATURE, 1970, 227 (5259) :680-+

[10] HIGH-RESOLUTION CHROMOSOME SORTING AND DNA SPOT-BLOT ANALYSIS ASSIGN MCARDLES SYNDROME TO CHROMOSOME-11 [J].

LEBO, RV ;

GORIN, F ;

FLETTERICK, RJ ;

KAO, FT ;

CHEUNG, MC ;

BRUCE, BD ;

KAN, YW .

SCIENCE, 1984, 225 (4657) :57-59

← 1 2 →