Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum

BACKGROUND: Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogrypo...

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Detalles Bibliográficos
Autores principales: Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Hossein-Nejad Nedai, Hamid, Varasteh, Vahid, Moslemi, Ali-Reza, Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774121/
https://www.ncbi.nlm.nih.gov/pubmed/26932181
http://dx.doi.org/10.1186/s12891-016-0947-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774121/
https://www.ncbi.nlm.nih.gov/pubmed/26932181
http://dx.doi.org/10.1186/s12891-016-0947-5

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