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

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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Veröffentlicht in:Neuromuscular disorders : NMD 2020-12, Vol.30 (12), p.1008-1048
Hauptverfasser: Benarroch, Louise, Bonne, Gisèle, Rivier, François, Hamroun, Dalil
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Sprache:eng
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Genetics
Human genetics
Human health and pathology
Life Sciences
Neurobiology
Neurons and Cognition
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container_end_page 1048
container_issue 12
container_start_page 1008
container_title Neuromuscular disorders : NMD
container_volume 30
creator Benarroch, Louise
Bonne, Gisèle
Rivier, François
Hamroun, Dalil
description 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.
doi_str_mv 10.1016/j.nmd.2020.11.009
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subjects Genetics
Human genetics
Human health and pathology
Life Sciences
Neurobiology
Neurons and Cognition
title The 2021 version of the gene table of neuromuscular disorders (nuclear genome)
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