Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics, |
RCV001175167 | SCV001132042 | pathogenic | Myofibrillar myopathy 2 | 2019-12-17 | criteria provided, single submitter | clinical testing | The c.514delG p.(Ala172fs) de novo variant in CRYAB has been detected in a Spanish boy with autosomal dominant congenite bilateral cataracts, palpebral bilateral ptosis, congenital hypotonia, dysfunction of the mitochondrial respiratory chain and a slight delay in motor skills acquisition, acute respiratory failure, he has a permanent tracheostomy for intermittent mechanical respiratory assistance and also presented dysphagia, since then he is basically fed by gastrostomy. Cardiomyopathy was not observed at the age of 4 years old. |