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Pontocerebellar atrophy
- ... M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the ...
- ... be somewhat less severe than other forms of pontocerebellar hypoplasia. Researchers also refer to PCH2D as progressive cerebellocerebral atrophy (PCCA).The SEPSECS gene mutations that cause PCH2D ...
- ... people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from ...