scholarly article | Q13442814 |
P50 | author | Yiming Zheng | Q85485799 |
Zhaoxia Wang | Q87819154 | ||
Yun Yuan | Q88839593 | ||
P2093 | author name string | Jiangxi Xiao | |
Zhiying Xie | |||
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Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I | Q59697187 | ||
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
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Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. | Q38978147 | ||
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. | Q40788313 | ||
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LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. | Q46481564 | ||
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation | Q46705125 | ||
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. | Q47676170 | ||
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies | Q48613716 | ||
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands | Q48793388 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P407 | language of work or name | English | Q1860 |
P921 | main subject | muscular dystrophy | Q1137767 |
P304 | page(s) | 3710814 | |
P577 | publication date | 2018-05-29 | |
P1433 | published in | BioMed Research International | Q17509958 |
P1476 | title | Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene | |
P478 | volume | 2018 |