A genetic study of subacute and chronic spinal muscular atrophy in childhood

1978 ◽  
Vol 37 (3) ◽  
pp. 227-248 ◽  
Author(s):  
John Pearn ◽  
Sarah Bundey ◽  
C.O. Carter ◽  
J. Wilson ◽  
D. Gardner-Medwin ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Genetic Study ◽  
Muscular Atrophy ◽  
Chronic Spinal Muscular Atrophy

A Genetic Study of Chronic Spinal Muscular Atrophy

1974 ◽  
Vol 23 (S1) ◽  
pp. 229-232
Author(s):  
Sarah Bundey ◽  
R.E. Lovelace
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Features ◽  
Genetic Study ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Muscular Atrophy ◽  
Adult Life ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Chronic Spinal Muscular Atrophy

The identity of an autosomal recessive form of chronic spinal muscular atrophy with clinical features intermediate between acute Werdnig-Hojfmann disease and Kugelberg-Welander disease is confirmed. This form accounts for the majority of patients with spinal muscular atrophy surviving into adult life. Spinal muscular atrophy with onset after 2 years of age is a heterogeneous group and both autosomal recessive and autosomal dominant forms occur.

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

2005 ◽  
Vol 253 (1) ◽  
pp. 21-25 ◽  
Author(s):  
I. Cuscó ◽  
M. J. Barceló ◽  
R. Rojas–García ◽  
I. Illa ◽  
J. Gámez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Copy Number ◽  
Muscular Atrophy ◽  
Intrafamilial Variability ◽  
Chronic Spinal Muscular Atrophy

A distal form of chronic spinal muscular atrophy

Neurology ◽  
1969 ◽  
Vol 19 (1) ◽  
pp. 53-53 ◽  
Author(s):  
J. C. Meadows ◽  
C. D. Marsden
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Chronic Spinal Muscular Atrophy

Chronic spinal muscular atrophy in adults

1969 ◽  
Vol 9 (3) ◽  
pp. 527-550 ◽  
Author(s):  
J.C. Meadows ◽  
C.D. Marsden ◽  
D.G.F. Harriman
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Chronic Spinal Muscular Atrophy

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

1996 ◽  
Vol 6 (6) ◽  
pp. 419-424 ◽  
Author(s):  
Frédérique Souchon ◽  
Louise R. Simard ◽  
Solange Lebrun ◽  
Camille Rochette ◽  
Jean Lambert ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Genetic Study ◽  
Muscular Atrophy ◽  
Childhood Onset
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