Spinal muscular atrophy variant with congenital fractures - PubMed (original) (raw)
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Spinal muscular atrophy variant with congenital fractures
T E Kelly et al. Am J Med Genet. 1999.
Abstract
A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN(T) gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.
Copyright 1999 Wiley-Liss, Inc.
Comment in
- Bone loading.
Miller M. Miller M. Am J Med Genet. 2000 Apr 24;91(5):396-7. Am J Med Genet. 2000. PMID: 10767006 No abstract available.
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