Scapuloperoneal myopathy
Definition:
References:
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[1]. Belinda S Cowling, et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011 Apr;21(4):237-51. [Content Brief]
[2]. Catarina M Quinzii, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. [Content Brief]
[3]. Elena Pegoraro, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. [Content Brief]
[4]. M C Walter, et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007 Jun;130(Pt 6):1485-96. [Content Brief]
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