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Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

Gamez J, Armstrong J, Shatunov A, Selva-O'Callaghan A, Dominguez-Oronoz R, Ortega A, Goldfarb L, Ferrer I, Olivé M.

J Neurol Sci. 2009 Feb 15;277(1-2):167-71. doi: 10.1016/j.jns.2008.10.019. Epub 2008 Nov 22.


Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.

Brain. 2005 Oct;128(Pt 10):2315-26. Epub 2005 Jun 9.


Neuromuscular disorders in the Gypsy ethnic group. A short review.

Navarro C, Teijeira S.

Acta Myol. 2003 May;22(1):11-4. Review.


Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

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