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.

scientific article published on 29 May 2018

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. is …
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scholarly articleQ13442814

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P356DOI10.1155/2018/3710814
P932PMC publication ID5996470
P698PubMed publication ID30003095

P50authorYiming ZhengQ85485799
Zhaoxia WangQ87819154
Yun YuanQ88839593
P2093author name stringJiangxi Xiao
Zhiying Xie
P2860cites workLimb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutationQ79108265
Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary studyQ80235144
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophiesQ83006075
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>AQ85896653
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutationsQ95381295
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.Q50658802
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.Q50878806
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.Q51016474
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).Q51705420
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.Q51725324
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Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.Q55070100
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsQ57390205
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotypeQ57562593
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2IQ59697187
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused byLMNAgene mutationsQ60315983
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spineQ61415100
Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular DystrophyQ61415120
Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophyQ70410817
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CQ77346768
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutationQ30320249
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal studyQ34963315
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.Q36232550
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related MyopathiesQ37157908
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyQ37610370
Dystroglycanopathies: coming into focusQ37852376
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophiesQ38584853
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
Experimental lovastatin myopathy.Q42288387
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.Q43241023
The phenotype of limb-girdle muscular dystrophy type 2IQ44411539
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 mutationQ46705125
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 dystroglycanopathiesQ48613716
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The NetherlandsQ48793388
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectmuscular dystrophyQ1137767
P304page(s)3710814
P577publication date2018-05-29
P1433published inBioMed Research InternationalQ17509958
P1476titleMagnetic 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
P478volume2018