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Article

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

European journal of human genetics : EJHG - 1 Jan 2004

Harel Tamar, Goldberg Yael, Shalev Stavit A, Chervinski Ilana, Ofir Rivka, Birk Ohad S

Abstract excerpt

Limb-girdle muscular dystrophies (LGMDs) represent a group of diseases characterized mainly by muscle wasting of the upper and lower limbs, with a wide range of clinical severity. The clinical heterogeneity is paralleled by molecular heterogeneity; each of the 10 forms of autosomal-recessive LGMD...

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Source

Identifiers

PMID: 14523375
DOI: 10.1038/sj.ejhg.5201087

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14523375-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.PMID 14523375Read ↗

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 ↗

[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].Semantic proximity Read ↗

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

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

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.Semantic proximity Read ↗

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.Semantic proximity Read ↗

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

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.Semantic proximity Read ↗

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

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.Semantic proximity Read ↗

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

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