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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Yiu EM,Ravat S,Ryan MM,Shield LK,Smith LJ,Kornberg AJdoi
10.1002/mus.21013subject
Has Abstractpub_date
2008-07-01 00:00:00pages
930-2issue
1eissn
0148-639Xissn
1097-4598journal_volume
38pub_type
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