Title: | A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness |
Journal : | Human genetics, 136, 7 |
Authors: | Knierim E, Author ; Gill E ; Seifert F ; Morales Gonzalez S ; Unudurthi SD ; Hund TJ ; Stenzel W ; Schuelke M |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 903 |
Languages: | English |
Keywords : | beta-IV-spectrin ; case studies ; clinical presentation ; congenital myopathy ; consanguinity ; deafness ; gène SPTBN4 ; genetic diagnosis ; genetic mutations ; immunohistochemistry ; mouse model ; nervous sytem diseases ; nonsense mutations ; sequencing ; skeletal muscle |
Pubmed / DOI : | DOI : 10.1007/s00439-017-1814-7 / Pubmed : 28540413 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28540413 |