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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
24
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pubmed:dateCreated |
2008-12-9
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pubmed:abstractText |
The axonal forms of Charcot-Marie-Tooth (CMT2) disease are a clinically and genetically heterogeneous group of disorders. Mitofusin 2 gene (MFN2) mutations are the most common cause of CMT2. Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:AiroldiGG,
pubmed-author:BassiM TMT,
pubmed-author:BonatoSS,
pubmed-author:BresolinNN,
pubmed-author:ComiG PGP,
pubmed-author:CorthRR,
pubmed-author:D'AngeloM GMG,
pubmed-author:Del BoRR,
pubmed-author:FedericoAA,
pubmed-author:GhezziSS,
pubmed-author:GuglieriMM,
pubmed-author:LampertiCC,
pubmed-author:MoggioMM,
pubmed-author:NapoliLL,
pubmed-author:RangoMM
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
71
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1959-66
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18946002-Adult,
pubmed-meshheading:18946002-Biopsy,
pubmed-meshheading:18946002-Brain Diseases, Metabolic,
pubmed-meshheading:18946002-Charcot-Marie-Tooth Disease,
pubmed-meshheading:18946002-Child,
pubmed-meshheading:18946002-Cognition Disorders,
pubmed-meshheading:18946002-DNA Mutational Analysis,
pubmed-meshheading:18946002-Energy Metabolism,
pubmed-meshheading:18946002-Genetic Predisposition to Disease,
pubmed-meshheading:18946002-Genetic Testing,
pubmed-meshheading:18946002-Heterozygote,
pubmed-meshheading:18946002-Humans,
pubmed-meshheading:18946002-Magnetic Resonance Spectroscopy,
pubmed-meshheading:18946002-Male,
pubmed-meshheading:18946002-Membrane Proteins,
pubmed-meshheading:18946002-Mitochondrial Diseases,
pubmed-meshheading:18946002-Mitochondrial Proteins,
pubmed-meshheading:18946002-Mutation, Missense,
pubmed-meshheading:18946002-Phosphates,
pubmed-meshheading:18946002-Sural Nerve,
pubmed-meshheading:18946002-Vision Disorders,
pubmed-meshheading:18946002-Visual Cortex
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pubmed:year |
2008
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pubmed:articleTitle |
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.
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pubmed:affiliation |
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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