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Article

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

Neuromuscular disorders : NMD - 1 Feb 2008

D'Amico Adele, Petrini Stefania, Parisi Francesco, Tessa Alessandra, Francalanci Paola, Grutter Giorgia, Santorelli Filippo M, Bertini Enrico

Abstract excerpt

Limb-girdle muscle dystrophy type 2I is associated with mutations in the gene encoding Fukutin-related protein. Clinical phenotypes are heterogeneous, ranging from isolated hyperCkemia to severe congenital muscular dystrophy. Affected patients frequently develop dilated cardiomyopathy, depending...

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Source

Identifiers

PMID: 18060779
DOI: 10.1016/j.nmd.2007.09.013

Genes

FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18060779-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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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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