LGMD2I in a North American population.
BACKGROUND
There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).


METHODS
We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype.


RESULTS
The c.826C>A, p.L276I mutation was present in six patients and a compound heterozygote mutation in a seventh patient. Six patients had a mild LGMD2I phenotype, which resembles that of Becker muscular dystrophy. The other patient had onset before the age of 3 years, and thus may follow a more severe course.


CONCLUSIONS
These findings suggest that LGMD2I may be common in certain North American populations. This diagnosis should be considered early in the evaluation of LGMD.
Kang
Peter B
PB
Program in Genomics, Children's Hospital Boston and Harvard Medical School, Boston, USA. peter.kang@childrens.harvard.edu
Feener
Chris A
CA
Estrella
Elicia
E
Thorne
Marielle
M
White
Alexander J
AJ
Darras
Basil T
BT
Amato
Anthony A
AA
Kunkel
Louis M
LM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000453:epidemiology* / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology / Q000235:genetics; D009154:Mutation; D009656:North America / Q000453:epidemiology; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases