G.P.14.06 LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene

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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. 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.