Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

By Cagliani R.   Fortunato F.   Giorda R.   Rodolico C.   Bonaglia M.C.   Sironi M.   D'Angelo M.G.   Prelle A.   Locatelli F.   Toscano A.   Bresolin N.   Comi G.P.  

Neuromuscular Disorders, Vol. 13, Iss. 10, 2003-12 ,pp. : 788-795

Elsevier

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A large deletion and novel point mutations in the calpain 3 gene ( CAPN3 ) in Bulgarian LGMD2A patients

By Todorova Albena   Georgieva Bilyana   Tournev Ivailo   Todorov Tihomir   Bogdanova Nadja   Mitev Vanyo   Mueller Clemens   Kremensky Ivo   Horst Jürgen  

Neurogenetics, Vol. 8, Iss. 3, 2007-08 ,pp. : 225-229

Springer Publishing Company

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

By Sáenz A.  

Brain, Vol. 128, Iss. 4, 2005-04 ,pp. : 732-742

Oxford University Press

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Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)

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Acta Neuropathologica, Vol. 107, Iss. 2, 2004-02 ,pp. : 111-118

Springer Publishing Company

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Calpainopathy: How broad is the spectrum of clinical variability?

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Journal of Molecular Neuroscience, Vol. 21, Iss. 3, 2003-10 ,pp. : 233-236

Humana Press, Inc

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