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Table 1 Proteins implicated in triad organization, roles and associated human diseasesa

From: T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

  Phenotype in humans Phenotype in rodents    
Proteins Skeletal muscle Cardiac muscle Skeletal muscle Cardiac muscle Membrane binding Membrane events Associated human diseases
CAV3 Yes Yes Yes Yes Cholesterol binding Caveolae formation LGMD-1C, RMD, FHC, LQTS
BIN1 Yes Yes n.r. Yes Phosphoinositide binding Membrane tubulation ARCNM
DYSF Yes Yes Yes Yes Transmembrane/phospholipid binding Membrane repair Dysferlinopathies
MG29 n.r. n.r. Yes No Transmembrane binding Triad structure n.r.
JPH1 n.r. n.r. Yes No Phospholipid binding Sarcolemma and SR junction formation n.r.
MTM1 Yes No Yes No Phosphoinositide binding Membrane transport XLMTM (XLCNM)
  1. an.r., not reported; LGMD-1C, limb-girdle muscular dystrophy type 1C; RMD, rippling muscle disease; FHC, familial hypertrophic cardiomyopathy; LQTS, long-QT syndrome; ARCNM, autosomal recessive centronuclear myopathy; SR, sarcoplasmic reticulum; XLMTM, X-linked myotubular myopathy; XLCNM, X-linked centronuclear myopathy.