Titre : | The 2022 version of the gene table of neuromuscular disorders (nuclear genome) |
Revue : | Neuromuscular disorders : NMD, 31, 12 |
Auteurs : | Cohen E ; Cohen E ; Bonne G ; Rivier F ; Hamroun D |
Type de document : | Article |
Editeur : | England, 12/2021 |
Pages : | p 1313 |
Note générale : | Institut de Myologie |
Langues: | Anglais |
Mots-clés : | article de type review ; classification des maladies ; gène ; hérédité ; maladie neuromusculaire |
Résumé : |
General features
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. As in past years the diseases are classified into 16 groups: 1. Muscular dystrophies; 2. Congenital muscular dystrophies; 3. Congenital myopathies; 4. Distal myopathies; 5. Other myopathies; 6. Myotonic syndromes; 7. Ion channel muscle diseases; 8. Malignant hyperthermias; 9. Metabolic myopathies; 10. Hereditary cardiomyopathies, subdivided into 10A (non-arrhythmogenic) and 10B (arrhythmogenic); 11. Congenital myasthenic syndromes; 12. SMA & Motor neurone diseases; 13. Hereditary ataxias; 14. Hereditary motor and sensory neuropathies; 15. Hereditary paraplegias; 16. Other neuromuscular disorders. In each group every entry corresponds to a clinical- genetic entity and has an item number. 2 A given gene may be involved in several different clinical entities (phenotypic heterogeneity such as in LMNA defects) and conversely a given clinical entity may be produced by a defect in several possible alternative genes (genotypic heterogeneity such as in CMT). In some diseases both kinds of heterogeneity may occur. As a consequence a gene or a disease may be cited in several places of the table. |
Lien associé : | Online version: GeneTable of Neuromuscular Disorders |
Pubmed / DOI : | Pubmed : 34930546 / DOI : 10.1016/j.nmd.2021.11.004 |
N° Profil MNM : | 2021122 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/34930546 |