We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.

Sandell, S., Mahjneh, I., Palmio, J., Tasca, G., Ricci, E., Udd, B., 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D, <<EUROPEAN JOURNAL OF NEUROLOGY>>, 2013; 20 (12): 1553-1559. [doi:10.1111/ene.12239] [http://hdl.handle.net/10807/60865]

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

Tasca, Giorgio;Ricci, Enzo;
2013

Abstract

We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.
2013
Inglese
Sandell, S., Mahjneh, I., Palmio, J., Tasca, G., Ricci, E., Udd, B., 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D, <<EUROPEAN JOURNAL OF NEUROLOGY>>, 2013; 20 (12): 1553-1559. [doi:10.1111/ene.12239] [http://hdl.handle.net/10807/60865]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/60865
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