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：

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
ISAACS, H
BADENHORST, ME
[J]. MUSCLE & NERVE, 1992, 15 (06) : 740 - 742
[6] ANESTHETIC-INDUCED MALIGNANT HYPERPYREXIA IN CHILDREN
KING, JO
DENBOROUGH, MA
[J]. JOURNAL OF PEDIATRICS, 1973, 83 (01) : 37 - 40
[7] King-Denborough syndrome: report of two Brazilian cases
Reed, UC
Resende, MBD
Ferreira, LG
Carvalho, MS
Diament, A
Scaff, M
Marie, SKN
[J]. ARQUIVOS DE NEURO-PSIQUIATRIA, 2002, 60 (3B) : 739 - 741
[8] MALIGNANT HYPERTHERMIA AND NEUROMUSCULAR DISEASE
WEDEL, DJ
[J]. NEUROMUSCULAR DISORDERS, 1992, 2 (03) : 157 - 164