Novel mutation inCNTNAP1results in congenital hypomyelinating neuropathy
نویسندگان
چکیده
منابع مشابه
Novel MPZ mutations and congenital hypomyelinating neuropathy.
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...
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Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of this condition to the hypomyelinating neuropathy of Trembler mice is discussed and the pertinent medical literature reviewed.
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Mouse models of human disease are helpful for understanding the pathogenesis of the disorder and ultimately for testing potential therapeutic agents. Here, we describe the engineering and characterization of a mouse carrying the I268N mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to in...
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Hypomyelinating leukodystrophy (HLD) is a genetic demyelinating and dismyelinating disease in the oligodendrocyte, the central nervous system (CNS) myelin-forming glia [1]. Pelizaeus-Merzbacher disease is a prototypic HLD and is now called HLD1. HLD1 is caused by mutations of the gene encoding proteolipid protein 1 (PLP1). HLD4 (OMIM No. 612233) is associated with a missense mutation of mitocho...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2017
ISSN: 0148-639X
DOI: 10.1002/mus.25416