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publicationName Neuromuscular disorders : NMD
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bibliographicCitation Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscular Disorders. 2018 Jul;28(7):614–8. doi: 10.1016/j.nmd.2018.04.012.
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date 201807
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language English
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title A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
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