Laminopathies are clinically extremely heterogeneous group of inherited disorders, caused by mutations in the same gene - lamin A/C (LMNA) gene. Lamins A and C are nuclear envelope proteins, representing alternatively spliced forms of the LMNA gene. It was identified that mutations in the LMNA gene cause inherited neuromuscular disorders and/or cardiac conduction disturbances, lipodystrophies, peripheral neuropathy and progeroid syndromes. Independent of the phenotype, the vast majority of LMNA mutations are homo- or heterozygous missense mutations. A few splice-site mutations some of which caused by silent codon changes resulting in a cryptic splice-site activation have been reported. In addition, single cases of nonsense mutations or in-frame and frame-shifting small nucleotide deletions and insertions are on record. Here we report on 8 different (5 novel) mutations in the LMNA gene, detected in a group of EDMD/LGMD1B patients by direct sequencing of the whole gene. A nonsense substitution, a splice-site change; a synonymous codon change, activating a cryptic splice-site and five missense substitutions were detected in our sample. Genotype-phenotype correlation was investigated in unrelated cases sharing the same mutation in the LMNA gene, as well as within a single family. We believe that the present results on this chameleonic gene might help to a better understanding of the pathophysiological mechanisms involved in the appearance of these tissue-specific diseases as a result of mutations in a gene expressed all over.