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• W3126292017 endingPage "263" @default.
• W3126292017 startingPage "263" @default.
• W3126292017 abstract "Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations. The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain. A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. All three genes undergo X-inactivation that, according to our hypothesis, may contribute to the extreme variable expressivity observed in this condition. We propose that mitochondrial dysfunction should be considered as an underlying cause in developmental disorders. Moreover, LSDMCA should be taken into consideration by clinicians when dealing with patients with microphthalmia with or without associated skin phenotypes." @default.
• W3126292017 created "2021-02-15" @default.
• W3126292017 creator A5066004697 @default.
• W3126292017 creator A5070822665 @default.
• W3126292017 date "2021-02-11" @default.
• W3126292017 modified "2023-10-13" @default.
• W3126292017 title "Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder" @default.
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• W3126292017 doi "https://doi.org/10.3390/genes12020263" @default.
• W3126292017 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7918533" @default.
• W3126292017 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33670341" @default.
• W3126292017 hasPublicationYear "2021" @default.
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