Longest Living Reported Case of Congenital Myopathy with Excess of Muscle Spindles (P2.334)

CONCLUSIONS: Our patient lacks the cardiomyopathy seen in CMEMS, which likely contributes to his longevity. The question remains if CMEMS is sub-type of Costello syndrome or a separate nosological entity. One major barrier to comparison is that children with CMEMS have not lived past infancy. Observation of our patient may provide insight to the relationship between these two genetically similar syndromes.Disclosure: Dr. Henry has nothing to disclose. Dr. Shiloh-Malawsky has nothing to disclose. Dr. Rowe has nothing to disclose. Dr. Fan has nothing to disclose.

Source: Neurology - April 9, 2014 Category: Neurology Authors: Henry, J., Shiloh-Malawsky, Y., Rowe, S., Fan, Z. Tags: Child Neurology and Developmental Neurology II Source Type: research