Novel MPZ mutations and congenital hypomyelinating neuropathy.

Neuromuscular Disorders : NMD
Hugh J McMillanPeter B Kang

Abstract

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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Citations

Apr 3, 2012·Journal of the Peripheral Nervous System : JPNS·Eppie M Yiu, Monique M Ryan
Dec 20, 2011·Journal of the Peripheral Nervous System : JPNS·Teresa SevillaCarmen Espinós
Jan 1, 2014·Muscle & Nerve·Ioannis KarakisPeter B Kang
Sep 27, 2016·Muscle & Nerve·Paulomi MehtaPankaj B Agrawal

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