## Abstract Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCHβ1. 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 diseas
Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
β Scribed by Enrico Parano; Lorenzo Pavone; Raffaele Falsaperla; Dr. Rosario Trifiletti; Ching Wang
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 540 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
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π SIMILAR VOLUMES
Spinal muscular atrophy (SMA) is an autosomal recessive disorder occurring at a rate of between 1/5,000 and 1/10,000 births in most European countries. The phenotype results from the degeneration of the anterior horn cells of the spinal cord, resulting in symmetrical muscle weakness and wasting. The
## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter