Periaxin mutations cause recessive Dejerine-Sottas neuropathy

American Journal of Human Genetics

Volumn 68, Issue 2, 2001, Pages 325-333

  Boerkoel, Cornelius F ^a   Takashima, Hiroshi ^a   Stankiewicz, Pawel ^a   Garcia, Carlos A ^b   Leber, Steven M ^c   Rhee Morris, Laila ^d   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSKELETON PROTEIN; MYELIN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 19Q; CLINICAL FEATURE; DEMYELINATING DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNTENY;

MURINAE;

EID: 0035121784     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318208     Document Type: Article

References (24)

1. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
2. Molecular basis of muscular dystrophies
3. Sur la névrite interstitielle hypertrophique et progressive de l'enfance
4. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene
5. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
6. Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells
7. Protein modules as organizers of membrane structure
8. Actin plays a role in both changes in cell shape and gene-expression associated with Schwann cell myelination
9. The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx)
10. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment
11. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice
12. 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
13. Recessive Charcot-Marie-Tooth disease
14. Charcot-Marie-Tooth peripheral neuropathies and related disorders
15. A PDZ protein ushers in new links
16. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease
17. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
18. Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development
19. Sequence mapping by electronic PCR
20. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
21. A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin
22. Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton
23. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
24. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies