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01-02-2010 | Letter to the editors

Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients

Authors: Frank Hanisch, Dörte Grimm, Stephan Zierz, Marcus Deschauer

Published in: Journal of Neurology | Issue 2/2010

Excerpt

Limb girdle muscular dystrophy type 2I (LGMD2I) is one of the more frequent autosomal-recessive LGMD forms in young and middle adulthood due to mutations in fukutin-related protein (FKRP) gene. It has been found to occur in 2.6–37% of different LGMD populations [1‐11]. The phenotype due to the common homozygous c.826C>A, FKRP mutation is rather mild, so the rate of undetected homozygous carriers is estimated to be high. …

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Title: Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients
Authors: Frank Hanisch
Dörte Grimm
Stephan Zierz
Marcus Deschauer
Publication date: 01-02-2010
Publisher: D. Steinkopff-Verlag
Published in: Journal of Neurology / Issue 2/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-009-5349-2

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Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients

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