Abstract:
:Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Bouldin AA,Parisi MA,Laing N,Patterson K,Gospe SM Jrdoi
10.1002/mus.20662subject
Has Abstractpub_date
2007-02-01 00:00:00pages
254-8issue
2eissn
0148-639Xissn
1097-4598journal_volume
35pub_type
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