A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N
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Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and paraclini... ...
