Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Dunand, Murielle; Lobrinus, Johannes Alexander; Jeannet, Pierre-Yves; Behin, Anthony; Claeys, Kristl G.; Selcen, Duygu; Kuntzer, Thierry

doi:10.1016/j.nmd.2009.07.013

Scientific article

Case report

English

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

ContributorsDunand, Murielle; Lobrinus, Johannes Alexander; Jeannet, Pierre-Yves; Behin, Anthony; Claeys, Kristl G.; Selcen, Duygu; Kuntzer, Thierry

Published inNeuromuscular disorders, vol. 19, no. 11, 802

Publication date2009

Keywords

Adult
Aged
Cardiomyopathies/*genetics/*metabolism
*Desmin/genetics/metabolism
Distal Myopathies/*genetics/*metabolism
Family Health
Female
Humans
*Mutation

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de pathologie et immunologie

Citation (ISO format)

DUNAND, Murielle et al. Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. In: Neuromuscular disorders, 2009, vol. 19, n° 11, p. 802. doi: 10.1016/j.nmd.2009.07.013

Article

Identifiers

PID : unige:19602
DOI : 10.1016/j.nmd.2009.07.013
PMID : 19716701

Commercial URLhttp://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=271174&_user=9565874&_pii=S0960896609005768&_check=y&_origin=article&_zone=toolbar&_coverDate=30-Nov-2009&view=c&originContentFamily=serial&wchp=dGLbVlB-zSkzS&md5=6661d08788b9e8d39c96006a3766af48/1-s2.0-S0960896609005768-main.pdf

Journal ISSN0960-8966

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Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

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