A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
- 1 April 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (2) , 131-135
- https://doi.org/10.1136/jmg.13.2.131
Abstract
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in 3 generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.This publication has 18 references indexed in Scilit:
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