Group:MUZIC:FilaminC: Difference between revisions
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• Recently a mutation of 7256C--->T (Thr2419Met) in exon 44 of FLNC coding for domain 22, has been linked to cerebral ataxia in some cases of MFM. <ref> PMID 22806379 </ref> | • Recently a mutation of 7256C--->T (Thr2419Met) in exon 44 of FLNC coding for domain 22, has been linked to cerebral ataxia in some cases of MFM. <ref> PMID 22806379 </ref> | ||
• A mutation of 577G---->A (Ala193Thr)in the Filamin C ABD has been | • A mutation of 577G---->A (Ala193Thr)in the Filamin C ABD has been shown to cause dominant distal myopathy <ref> PMID 21620354 </ref> | ||
For an extended pathophysiology of the MFM, see <ref> PMID 22961544 </ref> | For an extended pathophysiology of the MFM, see <ref> PMID 22961544 </ref> | ||