The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

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 neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at le...

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Published inNeuromuscular disorders : NMD Vol. 30; no. 12; pp. 1008 - 1048
Main Authors Benarroch, Louise, Bonne, Gisèle, Rivier, François, Hamroun, Dalil
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2020
Elsevier
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ISSN0960-8966
1873-2364
1873-2364
DOI10.1016/j.nmd.2020.11.009

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Summary: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 neuromuscular 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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ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2020.11.009