Die Neuropathie des Morvan-Syndroms ist durch eine progrediente Störungen der sensorischen und autonomen Nervenbahnen gekennzeichnet. Es ist eine autosomal rezessive Erkrankung, die durch funktionsmindernde Mutationen des WNK1 ausgelöst wird.
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None (1953) [A peculiar familial dystrophy; early inhibition of acral growth and non-mutilating acral osteolysis with facial dysmorphosis]. |
2. |
Sirinavin C et al. (1982) Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis. |
3. |
Ota M et al. (1973) Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. |
4. |
Schoene WC et al. (1970) Hereditary sensory neuropathy. A clinical and ultrastructural study. |
5. |
Hould F et al. (1967) [Hereditary radicular neuropathy with sensory loss: study of a French-Canadian family]. |
6. |
Freytag E et al. (1967) Neuropathologic findings in patients of a hospital for the mentally deficient. A survey of 359 cases. |
7. |
Haddow JE et al. (1970) Congenital sensory neuropathy in siblings. |
8. |
Barry JE et al. (1974) Congenital sensory neuropathy. |
9. |
None (1973) Congenital sensory neuropathy. |
10. |
Böckers M et al. (1989) Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. |
11. |
None (1946) FAMILIAL PERIPHERAL NEUROPATHY. |
12. |
Jedrzejowska H et al. (1976) Recessive hereditary sensory neuropathy. |
13. |
Shekarabi M et al. (2008) Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. |
14. |
Cho HJ et al. (2006) Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. |
15. |
Coen K et al. (2006) Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. |
16. |
Roddier K et al. (2005) Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. |
17. |
Rivière JB et al. (2004) A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. |
18. |
Lafreniere RG et al. (2004) Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. |
19. |
OGDEN TE et al. (1959) Some sensory syndromes in children: indifference to pain and sensory neuropathy. |
20. |
None () //// |
21. |
None (1957) Familial ulcers, mutilating lesions of the extremities, and acro-osteolysis. |
22. |
HELLER IH et al. (1955) Hereditary sensory neuropathy. |
23. |
None (1952) Familial and sporadic neurogenic acro-osteolysis. |
24. |
OMIM.ORG article Omim 201300 |
25. |
Orphanet article Orphanet ID 83467 |