LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
We report on two unrelated patients clinically presenting with late-onset progressive limb girdle weakness; cardiomyopathy was seen in one patient. Muscle biopsy revealed a necrotic myopathy with numerous rimmed vacuoles, ultrastructurally typical paired-helical filaments, and reduced immunohistochemical staining for alpha-dystroglycan. Quadriceps sparing hereditary inclusion body myopathy due to mutations in GNE gene, and OPMD due to PABPN1 mutations were excluded, genetically. We detected a homozygous mutation of the FKRP gene (826C>A) in both patients. Mutations of FKRP have been reported in congenital muscular dystrophies, LGMD2I, cardiomyopathy and hyperCKemia, but not in myopathies with vacuoles and paired-helical filaments. Therefore, our findings further extend the morphological variability of muscular dystrophies due to FKRP mutations.
Reilich
P
P
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University of Munich, Munich, Germany.
Petersen
J A
JA
Vielhaber
S
S
Mawrin
C
C
Schneider-Gold
C
C
Sommer
C
C
Reiners
K
K
Deschauer
M
M
Pongratz
D
D
Lochmüller
H
H
Walter
M C
MC
D000328:Adult; D003599:Cytoskeleton / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology*; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*; D014617:Vacuoles / Q000473:pathology
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases