Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.
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ABSTRACT:
SUBMITTER: Maia N
PROVIDER: S-EPMC7752365 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Publications
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>.
Maia Nuno N Soares Ana Rita AR Fortuna Ana Maria AM Marques Isabel I Gonçalves Ana A Santos Rosário R Melo Pires Manuel M de Brouwer Arjan P M APM Jorge Paula P
Clinical case reports 20200730 12
In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in <i>MYO7A</i> and<i>NEB</i> genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient. ...[more]
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