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 in | Neuromuscular disorders : NMD Vol. 30; no. 12; pp. 1008 - 1048 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
England
Elsevier B.V
01.12.2020
Elsevier |
Subjects | |
Online Access | Get full text |
ISSN | 0960-8966 1873-2364 1873-2364 |
DOI | 10.1016/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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0960-8966 1873-2364 1873-2364 |
DOI: | 10.1016/j.nmd.2020.11.009 |