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Article

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

The American journal of pathology - 1 Feb 2004

Brown Susan C, Torelli Silvia, Brockington Martin, Yuva Yeliz, Jimenez Cecilia, Feng Lucy, Anderson Louise, Ugo Isabella, Kroger Stephan, Bushby Kate, Voit Thomas, Sewry Caroline, Muntoni Francesco

Abstract excerpt

We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14742276
DOI: 10.1016/s0002-9440(10)63160-4
PMCID: PMC1602276

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.PMID 14742276Read ↗

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.Semantic proximity Read ↗

<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsSemantic proximity Read ↗

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.Semantic proximity Read ↗

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read ↗

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.Semantic proximity Read ↗

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

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.Semantic proximity Read ↗

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.Semantic proximity Read ↗

Defective glycosylation in congenital muscular dystrophies.Semantic proximity Read ↗

Functional requirements for fukutin-related protein in the Golgi apparatus.Semantic proximity Read ↗

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.Semantic proximity Read ↗

A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.Semantic proximity Read ↗

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