Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v‐ATPase components or the mitochondrial proline cycle. Besides cutis laxa, muscular hypotonia and ca...

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Detalles Bibliográficos
Autores principales: Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638669/
https://www.ncbi.nlm.nih.gov/pubmed/33320377
http://dx.doi.org/10.1002/jimd.12341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638669/
https://www.ncbi.nlm.nih.gov/pubmed/33320377
http://dx.doi.org/10.1002/jimd.12341

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