Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

被引：44

作者：

Greenberg, Steven A. ^{[1
,2
]}

Salajegheh, Mohammad ^{[1
,2
]}

Judge, Daniel P. ^{[3
]}

Feldman, Matthew W. ^{[3
]}

Kuncl, Ralph W. ^{[4
,5
]}

Waldon, Zachary ^{[6
]}

Steen, Hanno ^{[6
]}

Wagner, Kathryn R. ^{[7
,8
,9
]}

机构：

[1] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Neurol,Div Neuromuscular Dis, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Childrens Hosp, Informat Program,Childrens Hosp Boston, Boston, MA 02115 USA

[3] Johns Hopkins Univ, Div Cardiol, Ctr Inherited Heart Dis, Baltimore, MD USA

[4] Univ Rochester, Sch Med & Dent, Dept Neurol, Rochester, NY 14642 USA

[5] Univ Rochester, Sch Med & Dent, Dept Brain & Cognit Sci, Rochester, NY 14642 USA

[6] Harvard Univ, Sch Med, Prote Ctr, Childrens Hosp Boston, Boston, MA 02115 USA

[7] Johns Hopkins Sch Med, Ctr Genet Muscle Disorders, Kennedy Krieger Inst, Baltimore, MD USA

[8] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA

[9] Johns Hopkins Sch Med, Dept Neurosci, Baltimore, MD USA

来源：

ANNALS OF NEUROLOGY | 2012年 / 71卷 / 01期

关键词：

INCLUSION-BODY MYOSITIS; CARDIOMYOPATHY; IDENTIFICATION; MYOPATHY; MUSCLE;

D O I：

10.1002/ana.22649

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Limb girdle muscular dystrophy 1D/1E (OMIM nomenclature LGMD1D, Human Gene Nomenclature Committee LGMD1E), a skeletal and cardiac myopathy, has previously been linked to chromosome 6q23. We used laser capture microdissection to isolate cytoplasmic inclusions from skeletal muscle from a patient with LGMD1D/1E, performed mass spectrometrybased proteomics on these minute inclusions, and identified through bioinformatics desmin as their major constituent. Sequencing in this patient and family members identified the genetic basis of the previously reported 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gene located on chromosome 2q35. Ann Neurol 2011

引用

页码：141 / 145

页数：5

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