Family studies always bring to light a number of relatives with moderate enlargement of the thyroid gland suggestive of Hashimoto's thyroiditis
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10.1016/j.biopha.2020.110524 51 LiY.RanC.WeiK.XieY.XieM.ZhouW.et al (2021a)
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AIFM1 mutations have been associated with wide spectrum of clinical phenotypes with X-linked recessive inheritance including a severe, early-onset mitochondrial encephalomyopathy with combined oxidative phosphorylation deficiency [155] , prenatal ventriculomegaly [156] , the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and cognitive impairment [157] , auditory neuropathy spectrum disorder [158] , spondyloepimetaphyseal dysplasia with mental retardation [159] , and, more recently, cerebellar ataxia partially responsive to riboflavin [160]