ATYPICAL DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE AND MYELIN GENE MUTATIONS
Volume: 5, Issue: 1, Pages: 47 - 47
Published: Mar 1, 2000
Abstract
Among our series of patients with inherited demyelinating neuropathies, we identified families showing atypical features and carrying mutations in myelin genes. We observed two sibships with Dejerine‐Sottas disease born to consanguineous parents both affected by a mild Charcot‐Marie‐Tooth neuropathy with only slight nerve conduction showing (>40 m/sec in upper limbs). The children carried a homozygous frameshift mutation in the P0 gene...
Paper Details
Title
ATYPICAL DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE AND MYELIN GENE MUTATIONS
Published Date
Mar 1, 2000
Volume
5
Issue
1
Pages
47 - 47
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