Article
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
American journal of medical genetics. Part A - 15 Feb 2003
Rudnik-Schöneborn Sabine, Sztriha László, Aithala Gururaj R, Houge Gunnar, Laegreid Liv M, Seeger Jürgen, Huppke Michael, Wirth Brunhilde, Zerres Klaus
Abstract excerpt
Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH-1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder disease courses with later onset and longer survival are normally not diagnosed as PCH-1. We describe the clinical and...
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