de novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

被引：35

作者：

Hernandez-Lain, Aurelio ^{[1
,2
]}

Husson, Isabelle ^{[3
,4
]}

Monnier, Nicole ^{[5
,6
,7
]}

Farnoux, Caroline ^{[3
,4
]}

Brochier, Guy ^{[1
,8
]}

Lacene, Emmanuelle ^{[1
,8
]}

Beuvin, Maud ^{[1
,9
]}

Viou, Mait ^{[1
]}

Manere, Linda ^{[1
]}

Claeys, Kristl G. ^{[1
,8
]}

Fardeau, Michel ^{[1
,8
]}

Lunardi, Joel ^{[5
,6
,7
]}

Voit, Thomas ^{[8
,9
]}

Romero, Norma Beatriz ^{[1
,8
,9
]}

机构：

[1] Grp Hosp Univ Pitie Salpetriere, Unite Morphol Neuromusculaire, Inst Myol, F-75013 Paris, France

[2] Hosp 12 Octubre, Serv Anat Patol, E-28041 Madrid, Spain

[3] Hop Robert Debre, Serv Neuropediat, F-75019 Paris, France

[4] Hop Robert Debre, Serv Reanimat Infantile, F-75019 Paris, France

[5] CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, France

[6] CHU Grenoble, Ctr Reference Malad Neuromusculaires, F-38043 Grenoble, France

[7] Grenoble Inst Neurosci, INSERM, U836, F-38700 La Tronche, France

[8] Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusculaires Paris Est, F-75013 Paris, France

[9] CHU Pitie Salpetriere, Inst Myol, CNRS UMR 7215, INSERM U974,UPMC UMR S974, F-75013 Paris, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2011年 / 54卷 / 01期

关键词：

RYR1-gene; Congenital myopathy; RELEASE CHANNEL FUNCTION; NEMALINE MYOPATHY; MALIGNANT HYPERTHERMIA; CONGENITAL MYOPATHY; RYANODINE RECEPTOR; DISEASE; RYR1; DOMINANT; DOMAIN; MINICORES;

D O I：

10.1016/j.ejmg.2010.09.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

"Core-rod myopathy" is a rare congenital myopathy characterized by the presence of "cores" and "rods" in distinct locations in the same or different muscle fibres. This association is linked currently to mutations in RYR1, NEB and ACTA1 genes. We report identical twins who presented with polyhydramnios and loss of fetal motility during pregnancy; hypotonia, arthrogryposis and swallowing impairment at birth; need of immediate respiratory support and death at 27 and 50 days of life. Muscle biopsies, performed at 27 days of life in twin 1 and at 49 days in twin 2, showed the presence of separate cores and rods in the muscle fibres, both at light and electron microscopy. The molecular analysis showed a heterozygous de novo mutation (Ile4898Thr) of the RYR1 gene. The molecular study of ACTA1, TMP2 and TMP3 genes did not show abnormalities. This is the first report of a lethal form of congenital "core-rod myopathy". The mutation Ile4898Thr has been previously described in central core disease but not in core-rod myopathy. The report enlarges the phenotypic spectrum of "core-rod myopathy" and highlights the morphological variability associated to special RYR1 mutations. (C) 2010 Elsevier Masson SAS. All rights reserved.

引用

页码：29 / 33

页数：5

共 29 条

[1] CONGENITAL NONPROGRESSIVE MYOPATHY - CENTRAL CORE DISEASE AND NEMALINE MYOPTAHY IN 1 FAMILY [J].