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Article

Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.

Neuropediatrics - 1 Apr 2008

Kefi M, Amouri R, Chabrak S, Mechmeche R, Hentati F

Abstract excerpt

Mutations in the gene encoding fukutin-related protein (FKRP) cause limb-girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy (MDC1C). Cardiac involvement was frequently reported with numerous mutations including C826A and 1364C > A mutations. The original Tunisian family with LGMD2I included 12 patients sharing the LGMD phenotype and homozygous to the 1486T > A mutation but who did not display...

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Source

Identifiers

PMID: 18671187
DOI: 10.1055/s-2008-1081465

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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