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. (Q55555004)

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scientific article published on 29 May 2018

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English	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

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10 April 2020

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 (English)

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10 April 2020

muscular dystrophy

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10 April 2020

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10 April 2020

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Zhiying Xie

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Jiangxi Xiao

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BioMed Research International

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2018

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3710814

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29 May 2018

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April 2022 Public Data File from Crossref

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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

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Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation

1 reference

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12 August 2018

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands

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12 August 2018

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

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Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.

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Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.

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12 August 2018

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

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12 August 2018

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations

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12 August 2018

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

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Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

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Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

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Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5996470

12 August 2018

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5996470

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LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5996470

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Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

1 reference

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The phenotype of limb-girdle muscular dystrophy type 2I

1 reference

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A short protocol for muscle MRI in children with muscular dystrophies.

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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

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Identifiers

10.1155/2018/3710814

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10 April 2020

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10 April 2020

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10 April 2020

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