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Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene |
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| Authors: | Yiu Eppie M Ravat Sangeeta Ryan Monique M Shield Lloyd K Smith Lindsay J Kornberg Andrew J |
| Affiliation: | Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia. |
| Abstract: | Spinal muscular atrophy (SMA) is generally associated with proximal weakness and muscle wasting. An X-linked variant with calf hypertrophy has been reported. We describe a young man with SMA type 4 with prominent calf hypertrophy in whom DNA analysis showed a homozygous deletion of exons 7 and 8 in the telomeric copy of the survival motor neuron gene. Calf hypertrophy may be seen uncommonly in autosomally inherited SMA. |
| Keywords: | creatine kinase hypertrophy pediatric/adolescent spinal muscular atrophy survival motor neuron gene |
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