Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype

European Journal of Paediatric Neurology

Volumn 3, Issue 2, 1999, Pages 49-51

  Dubowitz, V ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE SEVERITY; GENE MUTATION; HUMAN; NOTE; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

EID: 0032954263     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(99)80012-9     Document Type: Article

References (9)

1. Dubowitz V Muscle Disorders in Childhood 2nd edn. 1995 WB Saunders Co London
2. MacLeod MJ Taylor JE Lunt PW Mathew CG Robb SA Prenatal onset spinal muscular atrophy Eur J Paediat Neurol 3 1999 65 72
3. Korinthenberg R Sauer M Ketelsen U-P Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region Ann Neurol 42 1997 364 368
4. Bingham P Shen N Rennert H Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNt gene Neurology 49 1997 848 851
5. Devriendt K Lammens M Schollen E Clinical and molecular genetic features of congenital spinal muscular atrophy Ann Neurol 40 1996 731 738
6. Munsat TL Workshop Report: International SMA collaboration Neuromusc Disord 1 1991 81
7. Munsat TL Davies KE Meeting Report. International SMA Consortium Neuromusc Disord 2 1992 423 428
8. Thomas NH Dubowitz V The natural history of type 1 (severe) spinal muscular atrophy Neuromusc Disord 4 1994 497 502
9. Dubowitz V Chaos in the classification of SMA: a possible resolution Neuromusc Disord 5 1995 3 5