pontocerebellar hypoplasia 1B

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pontocerebellar hypoplasia 1B2016-11-27T19:15:34+00:00

pontocerebellar hypoplasia 1B

NEUROLOGY

An autosomal recessive neurologic disorder (OMIM:614678) characterised by cerebellar and spinal motor neuron degeneration beginning at birth.

Clinical findings Diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.

Molecular pathology Defects in EXOSC3, which encodes a non-catalytic component of the RNA exosome complex with 3′ to 5′ exoribonuclease activity that participates in various RNA processing and degradation events, cause pontocerebellar hypoplasia 1B. 

References http://www.uniprot.org/uniprot/Q9NQT5

http://www.omim.org/entry/614678

 

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