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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [33 references]  Display  Hide  Download

https://hal.sorbonne-universite.fr/hal-01668854
Contributor : Gestionnaire Hal-Upmc <>
Submitted on : Wednesday, December 20, 2017 - 12:17:22 PM
Last modification on : Wednesday, May 29, 2019 - 11:46:02 AM

File

GT 2018 published.pdf
Files produced by the author(s)

Identifiers

Citation

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⟩

Share

Metrics

Record views

275

Files downloads

242