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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0026848|myopathy
Sentences 2
PubMedID- 25523636 Recently, mutations in the matrin 3 (matr3) gene were described in both als and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness.
PubMedID- 23842731 Also in the initial families distal weakness myopathy was associated with vocal cord and pharyngeal weakness, this was observed in half of our patients.

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