Klinisches spektrum der gliedergürtelmuskeldystrophie typ 21 bei mutation im "fukutin-related-protein"-gen

Translated title of the contribution: The clinical spectrum of limb-girdle muscular dystrophies type 21 in cases of a mutation in the fukutin related protein gene

M. Krasnianski, S. Neudecker, M. Deschauer, S. Zierz

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

LGMD2I, linked to chromosome 19q13.3, is caused by mutations in the fukutin related protein (FKRP) gene. This myopathy has a variable clinical course with weakness and wasting of the shoulder girdle muscles and proximal extremities, calf hypertrophy, and elevated serum CK. We describe five patients from four families harboring the typical C826A mutation in the FKRP gene. Three patients showed the typical clinical features of LGMD2I. One patient had prominent exercise-induced myalgia in addition to a limb-girdle syndrome. Another patient had myalgia, cramps, elevated serum CK and dilatative cardiomyopathy without muscle weakness and wasting. Thus, the phenotype of the C826A mutation in the FKRP gene is apparently not restricted to a clinical limb girdle syndrome.

Translated title of the contributionThe clinical spectrum of limb-girdle muscular dystrophies type 21 in cases of a mutation in the fukutin related protein gene
Original languageGerman
Pages (from-to)770-775
Number of pages6
JournalNervenarzt
Volume75
Issue number8
StatePublished - Aug 2004
Externally publishedYes

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