Associated Papers
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
von der Hagen M et al.
Neuropediatrics, 2020
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations
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