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.
Program in Genomics, Children's Hospital Boston and Harvard Medical School, Boston, USA. peter.kang@childrens.harvard.edu
Peter B
PB
Kang
Chris A
CA
Feener
Elicia
E
Estrella
Marielle
M
Thorne
Alexander J
AJ
White
Basil T
BT
Darras
Anthony A
AA
Amato
Louis M
LM
Kunkel
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