Unusual clinical features in infantile Spinal Muscular Atrophies

Brain and Development

Volumn 30, Issue 3, 2008, Pages 169-178

  Guillot, Nathalie ^a   Cuisset, Jean Marie ^a   Cuvellier, Jean Christophe ^a   Hurtevent, Jean François ^a   Joriot, Sylvie ^a   Vallee, Louis ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Arthrogryposis; Atypical SMA; Distal SMA; Motor neuron disorder; Pontocerebellar hypoplasia; Scapuloperoneal SMA; Spinal Muscular Atrophies of childhood

Indexed keywords

ADOLESCENT; ARTHROGRYPOSIS; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME 5Q; CLINICAL FEATURE; DEGENERATIVE DISEASE; FACIAL NERVE PARALYSIS; FEMALE; GENE; GENE DELETION; HOMOZYGOSITY; HUMAN; INFANT; INFANT DISEASE; INTERNATIONAL COOPERATION; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; PATHOPHYSIOLOGY; PHENOTYPE; PHRENIC NERVE; RETROSPECTIVE STUDY; SMN1 GENE; SPINAL CORD VENTRAL HORN; SPINAL MUSCULAR ATROPHY; SYMPTOMATOLOGY;

FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; RETROSPECTIVE STUDIES; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 39149105657     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.07.008     Document Type: Article

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