Figure 6. Summary of disease-associated LMNA mutations mapped onto the human lamin A protein [110]. Colors indicate the class of disease. Red, laminopathies with preferential involvement of skeletal and cardiac muscle, which range from muscle-wasting muscular dystrophies to cardiac conduction defects; blue, lipodystrophies, which specifically affect adipose tissues; brown, neuropathy disorders, which affect the motor and sensory neurons of the peripheral nervous system; green, 'systemic' laminopathies, which are heterogeneous disorders involving multiple tissue systems; purple, mutations associated with premature aging disorders. Mutations affecting amino acids 1 to 566 affect both lamin A and C isoforms, whereas mutations found in the carboxy-terminal 566 to 664 amino acids are specific to the lamin A isoform. fs, frameshift; del, deletion; ins, insertion; c, coding.
Image published in: Dittmer TA and Misteli T (2011)
Image downloaded from an Open Access article in PubMed Central. Copyright ©2011 BioMed Central Ltd.
Permanent Image Page
Printer Friendly View
XB-IMG-126635