Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy-Reference-Cited by-同舟云学术

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

Published:2015-12 Issue:4 Volume:20 Page:415-418
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Tufano Maria¹,Cappuccio Gerarda²,Terrone Gaetano²,Manganelli Fiore³,Pisciotta Chiara³,Geroldi Alessandro⁴,Capponi Simona⁴,Del Giudice Ennio²

Affiliation:

1. Metabolic and Neuromuscular Unit; Meyer Hospital; Florence Italy

2. Department of Translational Medical Sciences, Section of Pediatrics; University Federico II of Naples; Naples Italy

3. Department of Neurological Sciences; University Federico II of Naples; Naples Italy

4. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics; University of Genoa; Genoa Italy

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12148/fullpdf

Reference11 articles.

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2. GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features;Biancheri;J Neurol,2006

3. Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin 2 mutations;Brockmann;J Neurol,2008

4. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations;Chung;Brain,2006

5. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction;Del Bo;Neurology,2008

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