C. R. Muller

Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and

J. Afilalo, A. Vielle, A. Noegel, 2007 .

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

G. Comi, M. Lehane, A. Urwyler, 1998, American journal of human genetics.

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

G. Comi, A. Urwyler, J. Lunardi, 1998, Human mutation.

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.

J. Oldenburg, A. Fregin, S. Rost, 2002, Blood.

Central core disease: clinical, pathological, and genetic features

N. Laing, R. Quinlivan, C. Sewry, 2003, Archives of disease in childhood.