Naslov
Limb-girdle muscular dystrophy with calpain deficiency(LGMD 2A) in Croatia: a survey in a small rural community

Autori
Canki-Klain, Nina ; Zurak, Nikša ; Leturcq, Francoise ; Recan , Dominique ; Kaplan, Jean -Claude ; Urtizberea , Jan Andoni ; Potocki, Kristina ; Milicic, Davor

Izvornik
Neuromuscular Disorders (0960-8966) 9 (1999), 6-7; 502-503, D.P.7

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
calpain; clinical characteristics; genetics

Sažetak
Autosomal recessive limb-girdle muscular dystrophies (LGMD2) form a group of muscle diseases presenting great clinical and genetic heterogeneity. They are characterized by progressive muscular atrophy and weakness of the pelvic and shoulder girdle and proximal limb muscles, showing considerable variation in age of onset, evolution, and severity. At least six distinct genetic entities leading to an LGMD2 have been identified in the last years. They include four genes encoding for the sarcoglycans, the gene encoding for the calpain 3 (LGMD2A) and the LGMD2B locus mapped on chromosome 2p. We report seven males (two already deceased) and two females affected by a muscular dystrophy, similar to the description of juvenile limb-girdle muscular dystrophy of Reunion Island (Fardeau et al. Brain, 1996 ; 119: 295). A detailed clinical and genealogical study of these 9 patients from five apperently non related families permitted to identify links between the different nuclear families. Preliminary results of molecular analysis obtained by DGGE in two families have revealed three homozygous patients (oncle and his niece in one family ; one of two brothers in the second ) for the mutation 551 A. Because of increased inbreeding, we suspect that the same mutation is the cause of LGMD in other families as the consequence of founder effect in this village.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

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