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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2009

Bourteel H, Vermersch P, Cuisset J-M, Maurage C-A, Laforet P, Richard P, Stojkovic T

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein gene FKRP, which is also involved in congenital muscular dystrophy (MDC1C). OBJECTIVE: To evaluate the clinical, biological, radiological and mutational characteristics of LGMD2I patients with FKRP mutation. METHODS: Eleven patients from nine families from the north of France were studied. Demographical...

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Source

Identifiers

PMID: 19917824
DOI: 10.1136/jnnp.2007.141804

Genes

FKRP

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.PMID 19917824Read ↗

[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].Semantic proximity Read ↗

The phenotype of limb-girdle muscular dystrophy type 2I.Semantic proximity Read ↗

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.Semantic proximity Read ↗

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.Semantic proximity Read ↗

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.Semantic proximity Read ↗

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.Semantic proximity Read ↗

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.Semantic proximity Read ↗

LGMD2I in a North American population.Semantic proximity Read ↗

[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene].Semantic proximity Read ↗

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.Semantic proximity Read ↗

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 ↗

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