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 immunohistoche...

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Bibliographic Details
Published in:	Acta myologica Vol. 25; no. 2; p. 73
Main Authors:	Reilich, P, Petersen, J A, Vielhaber, S, Mawrin, C, Schneider-Gold, C, Sommer, C, Reiners, K, Deschauer, M, Pongratz, D, Lochmüller, H, Walter, M C
Format:	Journal Article
Language:	English
Published:	Italy 01-10-2006
Subjects:	Adult Cytoskeleton - pathology Humans Male Middle Aged Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Proteins - genetics Vacuoles - pathology
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Summary:	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.
ISSN:	1128-2460