X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Author:

Bonneau D,Rozet J M,Bulteau C,Berthier M,Mettey R,Gil R,Munnich A,Le Merrer M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Born at 30 weeks' gestation, At 1 y hypotonia, left Babinski's sign, birth weight 1800 g. Nystagmus horizontal nystagmus first noted at 11 mth NE = not examined

2. The hereditary ataxias and paraplegias;Harding, A.E.,1990

3. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg;Zatz, M.; Penha-Serrano, C.; Otto, P.A.;J Med Genet,1976

4. Keppen LD, Leppert MF, O'Connell PO, et al. Etiological heterogeneity in X-linked Genet 1987;41:933-43.

5. Hereditary cerebral palsy: a Johnston ApWre, liMmcinKaursyircekporVtA...7APesdeixa-tlrin1k9e5d7; r5e0ce:s4s5i4v-e8.form of spastic paraplegia;Blumel, J.; Evans, E.B.; Eggers, G.W.N.;Am 7 Hum Baar HS, Gabriel AM. Sex-linked Ment Defic,1966

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