Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.
Open Access
- 1 May 1995
- journal article
- review article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 58 (5) , 523-525
- https://doi.org/10.1136/jnnp.58.5.523
Abstract
No abstract availableThis publication has 36 references indexed in Scilit:
- Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsiesJournal of Neuroscience Research, 1994
- A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsiesNature Genetics, 1994
- Screening of dominantly inherited Charcot–Marie–Tooth neuropathiesMuscle & Nerve, 1993
- Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8qHuman Molecular Genetics, 1993
- Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1ANature Genetics, 1993
- Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1BNature Genetics, 1993
- Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 geneNature Genetics, 1993
- De-novo mutation in hereditary motor and sensory neuropathy type IThe Lancet, 1992
- A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth diseaseClinical Neurology and Neurosurgery, 1990
- Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17Experimental Neurology, 1989