Case Reports
doi: 10.1016/j.nmd.2006.08.007.
Epub 2006 Nov 20.
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I
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- PMID: 17113772
- DOI: 10.1016/j.nmd.2006.08.007
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Case Reports
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I
Neuromuscul Disord.
2006 Dec.
Abstract
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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