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. Author manuscript; available in PMC: 2010 Jul 27.
Published in final edited form as: Minerva Med. 2001 Dec;92(6):435–451.

Table IV.

Initial defects conferred by mutant contractile sarcomeric proteins.

Mechanical defect
 Impaired acto-myosin interaction
 Impaired cardiac myocyte, skeletal myoblasts and myofibril contractile performance
Biochemical defects
 Impaired Ca+2 affinity, force and myofibril sensitivity
Bioenergetics
 Impaired ATPase activity
Structural defects
 Impaired sarcomere assembly
 Impaired subcellular localization of sarcomeric proteins
 Altered stoichiometry