Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Beetz
Christian
C
Zuchner
Stephan
S
Ashley-Koch
Allison
A
Auer-Grumbach
Michaela
M
Byrne
Paula
P
Chinnery
Patrick F
PF
Hutchinson
Michael
M
McDermott
Christopher J
CJ
Meijer
Inge A
IA
Nygren
Anders O H
AO
Pericak-Vance
Margaret
M
Pyle
Angela
A
Rouleau
Guy A
GA
Schickel
Jörg
J
Shaw
Pamela J
PJ
Deufel
Thomas
T
D000251:Adenosine Triphosphatases / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human