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.
MeSH terms
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Adolescent
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Cyclic AMP Response Element-Binding Protein
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DNA Mutational Analysis
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Fatal Outcome
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Female
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Femoral Fractures / congenital
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Femoral Fractures / genetics
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Fractures, Bone / congenital*
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Fractures, Bone / genetics
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Genetic Variation
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Humans
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Humeral Fractures / congenital
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Humeral Fractures / genetics
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Infant
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Infant, Newborn
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Male
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Nerve Tissue Proteins / genetics
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RNA-Binding Proteins
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SMN Complex Proteins
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Spinal Muscular Atrophies of Childhood / genetics
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Spinal Muscular Atrophies of Childhood / pathology*
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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RNA-Binding Proteins
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SMN Complex Proteins