Leukodystrophy and acquired microcephaly with or without dystonia

Definition:

Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton.

References:

[1]. Simon Edvardson, et al. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. Neurogenetics. 2016 Jan;17(1):25-30. [Content Brief]

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