Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

We report a patient with profound congenital hypotonia, central hypoventilation, poor visual behaviour with retinal hypopigmentation, and significantly decreased mitochondrial respiratory chain complex I activity in muscle, who died at 7 months of age having made minimal developmental progress. Bial...

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Detalles Bibliográficos
Autores principales: Hay, Eleanor, Wilson, Louise C., Hoskins, Bethan, Samuels, Martin, Munot, Pinki, Rahman, Shamima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484625/
https://www.ncbi.nlm.nih.gov/pubmed/34285383
http://dx.doi.org/10.1038/s41431-021-00932-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484625/
https://www.ncbi.nlm.nih.gov/pubmed/34285383
http://dx.doi.org/10.1038/s41431-021-00932-8

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