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Publikováno v:
Neuropediatrics. 48:S1-S45
Autor:
Corina Heller, Bernd A. Neubauer, Andreas Hahn, Alexander Pepler, Michelle Grzybowski, Anne Schänzer
Publikováno v:
Neuropediatrics. 48(6)
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper