Abstract
We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.
| Original language | English |
|---|---|
| Pages (from-to) | 328-335 |
| Number of pages | 8 |
| Journal | American Journal of Medical Genetics |
| Volume | 33 |
| Issue number | 3 |
| Publication status | Published - 1989 |
Fingerprint
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm : A variant of infantile spinal muscular atrophy. / Bertini, E.; Gadisseux, J. L.; Palmieri, G.; Ricci, E.; Di Capua, M.; Ferriere, G.; Lyon, G.
In: American Journal of Medical Genetics, Vol. 33, No. 3, 1989, p. 328-335.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm
T2 - A variant of infantile spinal muscular atrophy
AU - Bertini, E.
AU - Gadisseux, J. L.
AU - Palmieri, G.
AU - Ricci, E.
AU - Di Capua, M.
AU - Ferriere, G.
AU - Lyon, G.
PY - 1989
Y1 - 1989
N2 - We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.
AB - We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.
UR - http://www.scopus.com/inward/record.url?scp=0024469393&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024469393&partnerID=8YFLogxK
M3 - Article
VL - 33
SP - 328
EP - 335
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -