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
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetics Human genetics Human health and pathology Life Sciences Neurobiology Neurons and Cognition
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	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.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2020.11.009