Spinal muscular atrophy—clinical and genetic correlations
K Zerres, B Wirth, S Rudnik-Schöneborn - Neuromuscular Disorders, 1997 - Elsevier
A clinical and molecular genetic study of nearly 500 patients with proximal spinal muscular
atrophy (SMA) was undertaken. On the basis of defined achieved milestones, survival
probabilities in type I (never able to sit), type II (able to sit but not to walk) and the probability
of being ambulatory in type III (achieved ability to walk) SMA for a total of 445 patients with
SMA are given. Specific deletions of the survival motor neuron (SMN) gene were found in
96% type I, 94% type II and 82% type III in a total of 191 patients, while four SMA type IV …
atrophy (SMA) was undertaken. On the basis of defined achieved milestones, survival
probabilities in type I (never able to sit), type II (able to sit but not to walk) and the probability
of being ambulatory in type III (achieved ability to walk) SMA for a total of 445 patients with
SMA are given. Specific deletions of the survival motor neuron (SMN) gene were found in
96% type I, 94% type II and 82% type III in a total of 191 patients, while four SMA type IV …
