Nineteen patients from 8 unrelated families (71%) diagnosed with EDMD-1, two patients from 2 families (18%) with EDMD-2, two patients from 1 family (9%) with rare EDMD-3. In EDMD-1 group, the mean onset age of disease was 5.5 ± 2.4 years, the most common initial sign was toe walking due to Achilles contracture. Scapuloperoneal muscle weakness distribution was the most common phenotypical feature. Cardiac involvement was observed in 90% of the patients during follow-up period and pace maker was implanted in 55% of them. Furthermore, 40% of female carriers had severe cardiac conduction defects.
Although the number of laminopathy patients were limited, the age of onset in EDMD-2 patients was found earlier. The distribution of muscle weakness was scapulo-humero-peroenal. In addition, gluteus maximus and adductor muscles were affected earlier and one patient showed early and serious respiratory involvement. Two patients diagnosed with EDMD-3 had scapulo-humero-peroneal muscle weakness with significant atrophy of pectoral, vastus lateralis and medialis muscles.
Seven mutations were found in EMD, four of them (c.416_417delTT; c.248_252delTACTC; c.19delC; Q44X [c.130C> T]) were novel. Two heterozygous (c.1357C>T; c.127G>A ) and one homozygous novel mutation (c.71C> G) were found in LAMIN A/C.