Résumé :
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Limb-girdle muscular dystrophies (LGMD) include a broad group of genetically determined progressive muscle disorders. By definition, patients should present primary or predominant symmetrical atrophy of the pelvic and/or shoulder girdle musculature, elevated serum creatine kinase and a necrotic regeneration pattern. However, the clinical course is characterized by a great variability and the term now includes many different phenotypes ranging from severe forms with onset in the first decade and rapid progression to milder forms with later onset and atypical presentation. LGMD2H – the 10th form of autosomal recessive limb girdle muscular dystrophy - was first described in 1976 in Hutterite Brethren population, a genetic and religious isolate from Northern America. The phenotype was reported as extremely variable ranging from asymptomatic individuals, only showing high CK values, to patients with evident muscle involvement, weakness and myalgia of neck and back muscles. In 1996 it was shown that the disease, in Hutterites, is due to mutations in TRIM32 gene, at 9q33.1 chromosome. We investigated 310 LGMD patients without mutation at the other loci to search for mutations of TRIM32. We identified five patients with novel mutated alleles (1,61%), 4 of them coming from Southern Italy and 1 from Croatia. We describe the phenotype associated with these mutations and indicate the clinical features that can help physicians to address the diagnosis.
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