期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 11, 页码 725-729出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.06.004
关键词
Charcot-Marie-Tooth, type 1B; Genetic variation; Sequence homology; Myelin protein zero; Hereditary motor and sensory neuropathies
资金
- NINDS [K08 NS048180]
- NIH [5K08NS064168]
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382del-GCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A > G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies. (C) 2010 Elsevier B.V. All rights reserved.
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