Titre : | Limb-girdle muscular dystrophy type 1 : anticipation or epigenetic modifications ? (poster) : Actes de colloque : 4ème colloque international de Myologie - 9-13 mai 2011; Lille, France |
contenu dans : | |
Auteurs : | Fanin M ; Peterle E |
Type de document : | Article |
Année de publication : | 2011 |
Pages : | p 116 |
Langues: | Anglais |
Mots-clés : | colloque |
Résumé : |
Objective: To describe clinical, muscle histopathological and genetic features of a large Italian-Spanish family with autosomal dominant LGMD, previously mapped to 7q32.2-32.2 (LGMD1F) without mutations in the Filamin C. A pedigree with 153 family members has been followed in seven generations.
Method: We collected the clinical history in 19 of 60 patients; muscle biopsy histopathology was investigated in one pair of affected patients (mother and daughter). Results: We observed that the age of onset varied from 2 to 35 years, and occurred either in upper or in lower girdle; in 14 cases there was hypotrophy both in proximal upper and in lower extremities in calf muscles. The severity was variably increased in successive generations. Moreover, we noticed a discrepancy between the clinical severity and muscle biopsy involvement: the daughter has a more severe clinical course, whereas the mother has a more compromised muscle histopathology (more muscle fibers atrophy, and autophagic changes by acid phosphatase stain). Although this pair of patients seems to represent the anticipation phenomenon, this was not observed in other family members,where onset of symptoms varied from 2 to 35 years of age.The course of disease was established with a Questinnaire in 18 affected members. Conclusions: Our results suggest that anticipation is not likely in this family, whereas epigenetic factors could play a key role in determining both the age and the phenotype |