Title: | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
Journal : | Journal of human genetics |
Authors: | Ahmad I ; Khan A ; Noor Ul Ayan H ; Budde B ; Altmuller J ; Korejo AA ; Nurnberg G ; Thiele H ; Tariq M ; Nurnberg P ; Erdmann J |
Material Type: | Article |
Publisher: | England, 11/10/2022 |
Languages: | English |
Keywords : | adulthood ; case studies ; centronuclear myopathy ; children ; congenital myopathy ; consanguinity ; diagnosis ; diseases descriptions ; female ; genotype-phenotype correlation ; letters ; male ; MAP3K20 gene ; neonatal hypotonia ; Pakistan |
Pubmed / DOI : | Pubmed : 36217027 / DOI : 10.1038/s10038-022-01085-2 |
N° Profil MNM : | 2022101 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/36217027 |