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Article

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

European journal of human genetics : EJHG - 1 Dec 2003

de Paula Flavia, Vieira Natássia, Starling Alessandra, Yamamoto Lydia Uraco, Lima Bruno, de Cássia Pavanello Rita, Vainzof Mariz, Nigro Vincenzo, Zatz Mayana

Abstract excerpt

Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene. Pathogenic changes in the same gene were detected in congenital muscular dystrophy patients (MDC1C), a severe disorder. We have screened...

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Source

Identifiers

PMID: 14647208
DOI: 10.1038/sj.ejhg.5201066

Genes

FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14647208-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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