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Periodic hypokaliemic paralysis: clinical and genetic molecular studies of a large inbred family

✍ Scribed by G. Marconi; A. Morrone; E. Pelo; E. Zammarchi; L. Mahjneh; F. Torricelli

Book ID
116168918
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
100 KB
Volume
6
Category
Article
ISSN
0960-8966

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## Abstract A novel __SPG4__ 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s