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

Maia, Nuno ; Soares, Ana Rita ; tuna, Ana Maria ; Marques, Isabel ; Gonçalves, Ana ; Santos, Rosário ; Melo Pires, Manuel ; de Brouwer, Arjan P M ; Jorge, Paula

Clinical case reports, 2020, Vol.8 (12), p.2476-2482

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Título:
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
Autor: Maia, Nuno ; Soares, Ana Rita ; tuna, Ana Maria ; Marques, Isabel ; Gonçalves, Ana ; Santos, Rosário ; Melo Pires, Manuel ; de Brouwer, Arjan P M ; Jorge, Paula
É parte de: Clinical case reports, 2020, Vol.8 (12), p.2476-2482
Notas: ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
Descrição: 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.
Idioma: Inglês

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