The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Abstract : This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic muscle diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included.
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Neuromuscular Disorders, Elsevier, 2017, 27 (12), pp.1152-1183. 〈10.1016/j.nmd.2017.10.005〉
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Gisèle Bonne, François Rivier, Dalil Hamroun. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders, Elsevier, 2017, 27 (12), pp.1152-1183. 〈10.1016/j.nmd.2017.10.005〉. 〈hal-01668854〉

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