Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling

J Peripher Nerv Syst. 2016 Mar;21(1):52-4. doi: 10.1111/jns.12155.

Authors

Pedro J Tomaselli¹, Alexander M Rossor¹, James M Polke², Roy Poh², Julian Blake^{1

3}, Mary M Reilly¹

Affiliations

¹ MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
² Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
³ Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.

PMID: 26930221
DOI: 10.1111/jns.12155

No abstract available

Keywords: Charcot-Marie-Tooth disease; Mitofusin 2; dominant; recessive; semi-dominant.

Publication types

Letter
Comment

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
GTP Phosphohydrolases / genetics
Genetic Counseling*
Humans
Membrane Proteins / genetics
Mitochondrial Proteins / genetics
Mutation
Phenotype

Substances

Membrane Proteins
Mitochondrial Proteins
GTP Phosphohydrolases