Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.
作者信息
Yiu Eppie M, Ravat Sangeeta, Ryan Monique M, Shield Lloyd K, Smith Lindsay J, Kornberg Andrew J
机构信息
Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.
出版信息
Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013.
PMID:18508340
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.
摘要
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