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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Abstract:

Charcot-Marie-Tooth type 4B (CMT4B), an autosomal recessive demyelinating neuropathy characterized by focally folded myelin sheaths in the peripheral nerve, has been associated with mutations in the gene encoding myotubularin-related protein 2, MTMR2, on chromosome 11q22. To investigate whether mutations in MTMR2 may also cause different forms of CMT, we screened 183 unrelated patients with a broad spectrum of CMT and related neuropathies using denaturing high-performance liquid chromatograph...

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Publication status:
Published

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Publisher copy:
10.1007/s100480000101

Authors


Boerkoel, CF More by this author
Takashima, H More by this author
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Journal:
Neurogenetics
Volume:
3
Issue:
2
Pages:
107-109
Publication date:
2001-03-05
DOI:
EISSN:
1364-6753
ISSN:
1364-6745
URN:
uuid:28b7b240-e60f-4762-a96d-5be53e55b39a
Source identifiers:
31878
Local pid:
pubs:31878

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