Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders

Volumn 23, Issue 5, 2013, Pages 391-398

  Dlamini, Nomazulu ^a   Josifova, Dragana J ^b   Paine, Simon M L ^c   Wraige, Elizabeth ^a   Pitt, Matthew ^d   Murphy, Amanda J ^e   King, Andrew ^f   Buk, Stefan ^f   Smith, Frances ^b   Abbs, Stephen ^b   Sewry, Caroline ^c   Jacques, Thomas S ^c   Jungbluth, Heinz ^a,g,h  

^a EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d King's College Hospital NHS Foundation Trust ^*  (United Kingdom)

^e GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^f KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Cerebellum; Infantile onset X linked SMA (SMAX2); Motor sensory neuronopathy; SMN1 gene; Spinal muscular atrophy (SMA); UBA1 gene; Ubiquitin proteasome system (UPS)

Indexed keywords

ALPHA FETOPROTEIN; CREATINE KINASE; CYTOCHROME C OXIDASE; HLA ANTIGEN; NEUROFILAMENT PROTEIN; OXIDOREDUCTASE; RYANODINE RECEPTOR 1;

AREFLEXIA; ARTICLE; BONE DYSPLASIA; BRAIN DEGENERATION; BRAIN RADIOGRAPHY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROTOPIA; HUMAN; HUMAN TISSUE; HYPEROSTOSIS; IGHMBP2 GENE; INFANT; LABORATORY TEST; LIVER CONGESTION; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOTOR NEURON DISEASE; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RYANODINE RECEPTOR 1 GENE; SENSORIMOTOR NEUROPATHY; SENSORY DYSFUNCTION; SPINAL MUSCULAR ATROPHY; THORAX RADIOGRAPHY; UBIQUITIN ACTIVATING ENZYME 1 GENE; X CHROMOSOME LINKED DISORDER;

ARTHROGRYPOSIS; FATAL OUTCOME; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SMN COMPLEX PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; UBIQUITIN-ACTIVATING ENZYMES;

EID: 84876078704     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.02.001     Document Type: Article

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