{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T08:21:23Z","timestamp":1780561283822,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T00:00:00Z","timestamp":1457395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pathogenic variants in the mitofusin 2 gene (<jats:italic>MFN2<\/jats:italic>) are the most common cause of autosomal dominant Charcot\u2010Marie\u2010Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7\u2010month\u2010old white female with hypotonia, motor delay, distal weakness, and motor\/sensory axonal neuropathy in which next\u2010generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.392A&gt;G) in <jats:italic>MFN2<\/jats:italic>. A review of the literature reveals that sporadic and familial cases of compound heterozygous or homozygous pathogenic <jats:italic>MFN2<\/jats:italic> variants have been infrequently described, which indicates that <jats:italic>MFN2<\/jats:italic> can also be inherited in a recessive manner. This case highlights several clinical findings not typically associated with <jats:italic>MFN2<\/jats:italic> pathogenic variants, including young age of onset and rapidly progressing diaphragmatic paresis that necessitated tracheostomy and mechanical ventilation, and adds to the growing list of features identified in autosomal recessive <jats:italic>MFN2<\/jats:italic>\u2010related CMT2. Our patient with <jats:italic>MFN2<\/jats:italic>\u2010related CMT2 expands the clinical and mutational spectrum of individuals with autosomal recessive CMT2 and identifies a new clinical feature that warrants further observation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37611","type":"journal-article","created":{"date-parts":[[2016,3,9]],"date-time":"2016-03-09T04:36:41Z","timestamp":1457498201000},"page":"1580-1584","source":"Crossref","is-referenced-by-count":20,"title":["Autosomal recessive <i>MFN2<\/i>\u2010related Charcot\u2010Marie\u2010Tooth disease with diaphragmatic weakness: Case report and literature review"],"prefix":"10.1002","volume":"170","author":[{"given":"Christopher A.","family":"Tan","sequence":"first","affiliation":[{"name":"Invitae Corporation San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Rabideau","sequence":"additional","affiliation":[{"name":"Invitae 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