Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

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Podrobná bibliografie
Vydáno v:Clin Case Rep
Hlavní autoři: Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752365/
https://ncbi.nlm.nih.gov/pubmed/33363762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3146
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