about
Myofibrillar myopathiesTargeted Deletion of the Muscular Dystrophy Gene myotilin Does Not Perturb Muscle Structure or Function in MiceProtective action of tetramethylpyrazine phosphate against dilated cardiomyopathy in cTnT(R141W) transgenic miceRNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Novel recessive myotilin mutation causes severe myofibrillar myopathy.Limb-girdle muscular dystrophies--from genetics to molecular pathology.Diagnostic immunohistochemistry in neuromuscular disorders.Distinct muscle imaging patterns in myofibrillar myopathies.Molecular pathology of myofibrillar myopathies.Myofibrillar myopathies.Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesHomozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Whole genome identity-by-descent determination.A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.Myotilinopathy: refining the clinical and myopathological phenotype.Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
P2860
Q28303812-F73D07C3-F310-4952-BB33-A74CB7419B9DQ29037453-AFA20AFF-8DA2-41B8-A2B0-F04675570D93Q30430580-A1229027-5738-4E92-B347-48887A9CB1CDQ33996884-FEDAA93A-E985-4D10-B914-C575515EB55EQ35166268-7C10800D-D234-4ADE-8F10-C24A6433201AQ35187989-9FB1E5EE-CF83-4067-A4EF-89F978394CC0Q35714351-F547C6A8-159C-4549-838D-3C43AE67FA13Q36012956-1B7E4D57-BBD2-49C8-BCEF-1BDE9E7B931BQ36974072-C23A4AF0-6B17-4CA9-B1E3-918C9E288DD9Q37258743-3D29289C-0DD2-4160-893E-D085B53AA759Q37260231-4B415C38-CCF5-4A7A-8667-73E60F6DDAF3Q37385129-6398A0F6-39B3-4D7A-85E7-2D0E9AAAFA2EQ37610524-C3B365DC-9817-4A41-BDDB-8E57C80F7BF6Q39181390-FC8E2C6B-ADC4-49DB-B84F-97FF21A0A4D7Q39351028-C2ACC992-7126-428B-9C58-C157CEF0803EQ42595771-74AF47D9-5C76-4F4D-BA83-9CE07FDE6CEAQ45059320-AD890FA6-E589-4BE4-BB11-9BA362D3007BQ45916393-FEE2B834-936B-43B3-9F2F-C1B5D8EF1528Q47782785-E0FE9F84-EA1E-4ED3-BD0D-B3BD05EE00ACQ54245073-B822A0FE-A4BF-4734-A269-E791F604F02DQ54386825-D00F38E3-9C89-4DEB-A7A8-B26333BD3C41
P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
name
myotilin Mutation found in second pedigree with LGMD1A
@ast
myotilin Mutation found in second pedigree with LGMD1A
@en
myotilin Mutation found in second pedigree with LGMD1A
@nl
type
label
myotilin Mutation found in second pedigree with LGMD1A
@ast
myotilin Mutation found in second pedigree with LGMD1A
@en
myotilin Mutation found in second pedigree with LGMD1A
@nl
prefLabel
myotilin Mutation found in second pedigree with LGMD1A
@ast
myotilin Mutation found in second pedigree with LGMD1A
@en
myotilin Mutation found in second pedigree with LGMD1A
@nl
P2093
P2860
P356
P1476
myotilin Mutation found in second pedigree with LGMD1A
@en
P2093
Alberto L Rosa
Ana L Taratuto
Cecilia B Conde
Guillermo Zeppa
Marcy C Speer
Michael A Hauser
Udana M Torian
Valeria Kowaljow
P2860
P304
P356
10.1086/344532
P407
P577
2002-12-01T00:00:00Z