Novel MPZ mutations and congenital hypomyelinating neuropathy.
نویسندگان
چکیده
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (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.
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عنوان ژورنال:
- Neuromuscular disorders : NMD
دوره 20 11 شماره
صفحات -
تاریخ انتشار 2010