L. Merlini

Autosomal recessive Bethlem myopathy

E. Mercuri, A. Ferlini, S. Messina, 2009, Neurology.

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

P. Bonaldo, P. Sabatelli, L. Merlini, 2008, Neurology.

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

E. Bertini, B. Giusti, E. Mercuri, 2005, Neurology.

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

P. Bonaldo, P. Sabatelli, P. Grumati, 2008, Neurology.

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

E. Bertini, G. Comi, R. Caldara, 2007, Neurology.

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle

N. Maraldi, C. Capanni, K. Scotlandi, 2011, Cell Death and Differentiation.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

M. Lisanti, P. Sabatelli, I. Carbone, 2002, Journal of neurology, neurosurgery, and psychiatry.