A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
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DOI: 10.1016/j.nmd.2018.07.006
Abstract: MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently… read more here.
Keywords: myh7; founder; founder mutation; laing distal ... See more keywords