| Title: | Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome |
| Journal : | Journal of human genetics, 66, 8 |
| Authors: | Bardhan M ; Polavarapu K ; Bevinahalli NN ; Veeramani PK ; Anjanappa RM ; Arunachal G ; Shingavi L ; Vengalil S ; Nashi S ; Chawla T ; Nagabushana D ; Mohan D ; Horvath R ; Nishino I ; Atchayaram N |
| Material Type: | Article |
| Publisher: | England, 08/2021 |
| Size: | p 813 |
| Languages: | English |
| Pubmed / DOI : |
Pubmed : 33712684  / DOI : 10.1038/s10038-021-00913-1
|
| N° Profil MNM : | 2021032 |
| Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33712684 |
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Bibliographic database on neuromuscular diseases
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