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Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Latour P,
Blanquet F,
Nelis E,
Bonnebouche C,
Chapon F,
Diraison P,
Ollagnon E,
Dautigny A,
Pham-Dinh D,
Chazot G, et al.
Laboratoire de Biochimie, Hôpital de l'Antiquaille, Lyon, France.
Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT 1a, and in the peripheral myelin protein zero (PO) located on chromosome 1q21-q23 (CMT 1b). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin.
PMID: 7550231 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.
Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C.
J Neurol Neurosurg Psychiatry. 2000 Dec; 69(6):799-805.
[J Neurol Neurosurg Psychiatry. 2000]
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High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.
Am J Hum Genet. 1996 Mar; 58(3):638-41.
[Am J Hum Genet. 1996]