TY  - GEN
AU  - Donkervoort,S
AU  - Dastgir,J
AU  - Hu,Y
AU  - Zein,W M
AU  - Marks,H
AU  - Blackstone,C
AU  - Bönnemann,C G
TI  - Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia
SN  - 1399-0004
PY  - 2015///0512
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Founder Effect
KW  - Humans
KW  - Male
KW  - Mixed Function Oxygenases
KW  - genetics
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Siblings
KW  - Spastic Paraplegia, Hereditary
KW  - etiology
N1  - Publication Type: Case Reports; Letter; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1111/cge.12185
ER  -