March 9, 2012American Journal of Medical Genetics Part A

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

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Structured PICO

Population

1 patient with severe congenital nemaline myopathy (NM) manifesting fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia

Intervention

Massively parallel sequencing with target gene capture

Outcome

Identification of genetic mutation causing the disease

Massively parallel sequencing identified recessive RYR1 mutations as a cause of severe congenital nemaline myopathy with ophthalomoplegia.

Discussion

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Implication

RYR1 testing may warrant consideration in severe congenital nemaline myopathy with ophthalmoplegia; extends genetic causes but remains hypothesis-generating.

Cite This Study

Kondo et al. (2012) studied this question.

synapsesocial.com/papers/6a70345b26a7f98052dcb57c https://doi.org/10.1002/ajmg.a.35243

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Implication

RYR1 testing may warrant consideration in severe congenital nemaline myopathy with ophthalmoplegia; extends genetic causes but remains hypothesis-generating.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

Structured PICO

Discussion

Implication

Cite This Study

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider