| Title: | Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine |
| Journal : | European journal of human genetics : EJHG, 23, 6 |
| Authors: | O'Grady GL ; Best HA ; Oates EC ; Kaur S ; Charlton A ; Brammah S ; Punetha J ; Kesari A ; North KN ; Ilkovski B ; Hoffman EP ; Clarke NF |
| Material Type: | Article |
| Publication Date: | 2015 |
| Size: | p 883 |
| Languages: | English |
| Keywords : | ACTA1 gene ; anatomopathology ; case studies ; clinical presentation ; congenital muscular dystrophy ; muscle biopsies ; rigid spine |
| Pubmed / DOI : |
DOI : 10.1038/ejhg.2014.169  / Pubmed : 25182138
|
| Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25182138 |
| See also : |
MYOBASE
Bibliographic database on neuromuscular diseases
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