Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Authors:
Schon K; Spasic-Boskovic O; Brugger K; Graves TD; Abbs S and 3 more

Journal:
Neurogenetics

Publication Year: 2017

DOI:
10.1007/s10048-016-0504-2

PMCID:
PMC5243894

PMID:
28063088

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Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"We would like to thank the family for their participation and Terence Elsey for his contribution to the sequence analysis and Dr. Julian Ray for performing the nerve conduction studies and electromyography. KS would like to thank the National Institute of Health Research for funding her Academic Clinical Fellowship job. This work was done as part of routine NHS care and did not require funding. We do not have any competing interests."

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Last Updated: Aug 05, 2025