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Article

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

Revue neurologique - 1 Feb 2007

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

Abstract excerpt

INTRODUCTION: Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I. PATIENTS AND METHODS: Eleven patients belonging to 9 families from the North of France were selected. We reported demographic data, and results of muscular testing, cardiac, and respiratory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17351538
DOI: 10.1016/s0035-3787(07)90390-2

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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