Novel MPZ mutations and congenital hypomyelinating neuropathy

作者：McMillan Hugh J; Santagata Sandro; Shapiro Frederic; Batish Sat Dev; Couchon Libby; Donnelly Stephen; Kang Peter B^*

来源：Neuromuscular Disorders, 2010, 20(11): 725-729.

DOI：10.1016/j.nmd.2010.06.004

• Charcot-Marie-Tooth, type 1B
• Genetic variation
• Sequence homology
• Myelin protein zero
• Hereditary motor and sensory neuropathies

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.

• 出版日期2010-11