title: LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
abstract: 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.
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University of Munich, Munich, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Reilich
authors.forename: J A
authors.initials: JA
authors.lastname: Petersen
authors.forename: S
authors.initials: S
authors.lastname: Vielhaber
authors.forename: C
authors.initials: C
authors.lastname: Mawrin
authors.forename: C
authors.initials: C
authors.lastname: Schneider-Gold
authors.forename: C
authors.initials: C
authors.lastname: Sommer
authors.forename: K
authors.initials: K
authors.lastname: Reiners
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: M C
authors.initials: MC
authors.lastname: Walter
mesh_terms: 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
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases