Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion

被引：119

作者：

Clarke, Nigel F. ^{[1
,2
]}

Waddell, Leigh B. ^{[1
,2
]}

Cooper, Sandra T. ^{[1
,2
]}

Perry, Margaret ^{[2
,3
]}

Smith, Robert L. L. ^{[4
,5
]}

Kornberg, Andrew J. ^{[6
]}

Muntoni, Francesco ^{[7
]}

Lillis, Suzanne ^{[8
]}

Straub, Volker ^{[9
]}

Bushby, Kate ^{[9
]}

Guglieri, Michela ^{[9
]}

King, Mary D. ^{[10
]}

Farrell, Michael A. ^{[11
]}

Marty, Isabelle ^{[12
]}

Lunardi, Joel ^{[12
]}

Monnier, Nicole ^{[12
]}

North, Kathryn N. ^{[1
,2
]}

机构：

[1] Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia

[2] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia

[3] Childrens Hosp Westmead, Anaesthet Dept, Sydney, NSW, Australia

[4] John Hunter Childrens Hosp, Newcastle, NSW, Australia

[5] Univ Discipline Paediat & Child Hlth, Newcastle, NSW, Australia

[6] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia

[7] Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[8] Guys Hosp, Diagnost Genet Lab, London SE1 9RT, England

[9] Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England

[10] Childrens Univ Hosp Temple, Neurol Dept, Dublin, Ireland

[11] Beaumont Hosp, Dept Neuropathol, Dublin 9, Ireland

[12] CHU Grenoble, INSERM, U836, F-38043 Grenoble, France

来源：

HUMAN MUTATION | 2010年 / 31卷 / 07期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

RYR1; congenital myopathy; congenital fiber type disproportion; multi-minicore disease; MYOPATHIES; MUSCLE;

D O I：

10.1002/humu.21278

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been excluded. We identified compound heterozygous changes in the RYR1 gene in four families (five patients), consistent with autosomal recessive inheritance. Three out of five patients had ophthalmoplegia, which may be the most specific clinical indication of mutations in RYR1. Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion. (C) 2010 Wiley-Liss, Inc.

引用

页码：E1544 / E1550

页数：7

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