The limb-girdle muscular dystrophy 2C in Gypsies

Clinical and laboratory data are presented of 68 Gypsy patients belonging to 35 families living in 6 different European countries sharing the same "private" C283Y mutation in the g-sarcoglycan gene. Clinical examination and muscle imaging showed an early selective involvement of the glutei, adductors, hamstrings, spinalis, abdominals, subscapularis, and soleus and long-lasting sparing of quadriceps. Fifty percent had the same severe progression as the Duchenne patients, 25% of patients had the intermediate phenotype and the remaining 25% had the Becker phenotype. Neither mental retardation nor dilated cardiomyopathy was observed. Twenty-five percent of patients were already older than 26 years at the time of examination.