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The prenatal diagnosis of spinal muscular atrophy

✍ Scribed by Gert Matthijs; Koen Devriendt; Jean-Pierre Fryns

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
67 KB
Volume
18
Category
Article
ISSN
0197-3851

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πŸ“œ SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
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X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male

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## Abstract 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 diseas

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✍ Michael Briese; Behrooz Esmaeili; David B. Sattelle πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 328 KB

## Abstract The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood onset is one of the most common genetic causes of infant mortality. The disease is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutations