Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but...
Eur. J. Hum. Genet. - issue: 7 - volume: 23 - pages: 929-934.