D.P.3.03 Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy in two unrelated families is associated with the desmin mutation Asn342Asp

A.J Van Der Kooi,M.M.J Kraak,P.F Ippel,A.F Vrancken,J.E Hoogendijk,A Van Den Wijngaard,J.P Van Tintelen,M De Visser,F.G.I Jennekens,J.D.H Jongbloed

doi:10.1016/j.nmd.2008.06.145

D.P.3.03 Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy in two unrelated families is associated with the desmin mutation Asn342Asp

A.J Van Der Kooi, M.M.J Kraak + Show 8 more

https://doi.org/10.1016/j.nmd.2008.06.145

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Journal: Neuromuscular disorders : NMD

Publication Date: Aug 19, 2008

Affiliation: University Medical Center Groningen, University Medical Center Utrecht

#Inflammatory Myopathy #Desmin Gene + Show 8 more

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Abstract

Background: In 1975, Jennekens et al. reported on two Dutch families with inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy. Aim: To identify the underlying genetic defect. Methods: The pedigrees were extended. Six additional affected persons were examined. Muscle biopsy was performed for additional staining of desmin. Linkage analysis was performed to exclude the locus on chromosome 6q, associated with LGMD1E. DNA analysis of the lamin A/C, myotilin and desmin gene (DES) was performed in available family members.

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