TY  - GEN
AU  - Dlamini,Nomazulu
AU  - Josifova,Dragana J
AU  - Paine,Simon M L
AU  - Wraige,Elizabeth
AU  - Pitt,Matthew
AU  - Murphy,Amanda J
AU  - King,Andrew
AU  - Buk,Stefan
AU  - Smith,Frances
AU  - Abbs,Stephen
AU  - Sewry,Caroline
AU  - Jacques,Thomas S
AU  - Jungbluth,Heinz
TI  - Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
SN  - 1873-2364
PY  - 2013///1113
KW  - Arthrogryposis
KW  - genetics
KW  - Fatal Outcome
KW  - Genes, X-Linked
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - SMN Complex Proteins
KW  - Spinal Muscular Atrophies of Childhood
KW  - complications
KW  - Ubiquitin-Activating Enzymes
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2013.02.001
ER  -