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

Authors: Vieira, N M  Schlesinger, D  de Paula, F  Vainzof, M  Zatz, M 
Citation: Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
Pubmed: (View Article at PubMed) PMID:17113772
DOI: Full-text: DOI:10.1016/j.nmd.2006.08.007

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 mutation, due to an intragenic recombination.

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CRRD ID: 11667966
Created: 2017-01-19
Species: All species
Last Modified: 2017-01-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.