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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

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