Title: | Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 |
Journal : | Orphanet journal of rare diseases, 17, 1 |
Authors: | Yuan H ; Wang Q ; Zeng X ; He P ; Xu W ; Guo H ; Liu Y ; Lin Y |
Material Type: | Article |
Publication Date: | 04/04/2022 |
Size: | p 149 |
Languages: | English |
Keywords : | adulthood ; case studies ; China ; congenital myopathy ; diagnosis ; epidemiology ; genetic diagnosis ; incidence ; KLHL40 gene ; rod myopathy |
Keywords: | Carrier screening;Fetal akinesia;KLHL40;Nemaline myopathy;Polyhydramnios;Respiratory failure; |
Pubmed / DOI : | Pubmed : 35379254 / DOI : 10.1186/s13023-022-02306-9 |
N° Profil MNM : | 2022041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/35379254 |