Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Author： Walter M. C.

Publisher： Oxford University Press

ISSN： 1460-2156

Source： Brain, Vol.130, Iss.6, 2007-06, pp. : 1485-1496

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

By Dagvadorj Ayush Olivé Montse Urtizberea Jean-Andoni Halle Martin Shatunov Alexey Bönnemann Carsten Park Kye-Yoon Goebel Hans Ferrer Isidro Vicart Patrick Dalakas Marinos Goldfarb Lev

Journal of Neurology, Vol. 251, Iss. 2, 2004-02 ,pp. : 143-149

Springer Publishing Company

Access to resources Recommend Favorite

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

By Pietrini Vladimiro Marbini Adriana Galli Lucia Sorrentino Vincenzo

Journal of Neurology, Vol. 251, Iss. 1, 2004-01 ,pp. : 102-104

Springer Publishing Company

Access to resources Recommend Favorite

Adult‐onset Rasmussen encephalitis associated with focal cortical dysplasia

EPILEPTIC DISORDERS, Vol. 19, Iss. 4, 2017-12 ,pp. : 476-480

John Wiley & Sons Inc

Access to resources Recommend Favorite

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

By Cirak Sebahattin

Brain, Vol. 133, Iss. 7, 2010-07 ,pp. : 2123-2135

Oxford University Press

Access to resources Recommend Favorite

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

By Bot Susanne Vermeer Sascha Buijsman Wendy Heister Angelien Voorendt Marsha Verrips Aad Scheffer Hans Kremer Hubertus Warrenburg Bart Kamsteeg Erik-Jan

Journal of Neurology, Vol. 260, Iss. 7, 2013-07 ,pp. : 1765-1769

Springer Publishing Company

Access to resources Recommend Favorite