King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene

被引：30

作者：

D'Arcy, C. E. ^{[2
,3
]}

Bjorksten, A. ^{[4
,5
]}

Yiu, E. M. ^{[1
]}

Bankier, A. ^{[2
,5
]}

Gillies, R. ^{[4
]}

McLean, C. A. ^{[2
,3
]}

Shield, L. K. ^{[1
]}

Ryan, M. M. ^{[1
,5
]}

机构：

[1] Royal Childrens Hosp, Childrens Neurosci Ctr, Melbourne, Vic, Australia

[2] Monash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic 3004, Australia

[3] Alfred Hosp, Dept Anat Pathol, Melbourne, Vic, Australia

[4] Royal Melbourne Hosp, Malignant Hyperthermia Diagnost Unit, Melbourne, Vic, Australia

[5] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

来源：

NEUROLOGY | 2008年 / 71卷 / 10期

关键词：

D O I：

10.1212/01.wnl.0000324929.33780.2f

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：776 / 777

页数：5

共 8 条

[1]

DENBOROUGH MA, 1970, LANCET, V1, P1138

[2]

Graham GE, 1998, AM J MED GENET, V78, P254, DOI 10.1002/(SICI)1096-8628(19980707)78:3<254::AID-AJMG9>3.0.CO

[3]

2-P

[4]

Heiman-Patterson T D, 1986, Pediatr Neurol, V2, P175, DOI 10.1016/0887-8994(86)90013-5

[5] DOMINANTLY INHERITED MALIGNANT HYPERTHERMIA (MH) IN THE KING-DENBOROUGH SYNDROME [J].

ISAACS, H ;

BADENHORST, ME .

MUSCLE & NERVE, 1992, 15 (06) :740-742

[6] ANESTHETIC-INDUCED MALIGNANT HYPERPYREXIA IN CHILDREN [J].

KING, JO ;

DENBOROUGH, MA .

JOURNAL OF PEDIATRICS, 1973, 83 (01) :37-40

[7] King-Denborough syndrome: report of two Brazilian cases [J].

Reed, UC ;

Resende, MBD ;

Ferreira, LG ;

Carvalho, MS ;

Diament, A ;

Scaff, M ;

Marie, SKN .

ARQUIVOS DE NEURO-PSIQUIATRIA, 2002, 60 (3B) :739-741

[8] MALIGNANT HYPERTHERMIA AND NEUROMUSCULAR DISEASE [J].

WEDEL, DJ .

NEUROMUSCULAR DISORDERS, 1992, 2 (03) :157-164

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