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Article

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

Neuromuscular disorders : NMD - 1 Dec 2006

Vieira N M, Schlesinger D, de Paula F, Vainzof M, Zatz M

Abstract excerpt

We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A. However, the youngest sister with a milder course carried the paternal and only the V79M maternal...

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Source

Identifiers

PMID: 17113772
DOI: 10.1016/j.nmd.2006.08.007

Genes

FKRP

Variants

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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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