Neuromuscular Disorders
Volume 18, Issue 12 , Page 1005 , December 2008

TPM2 mutation

Received 13 July 2008

References 

  1. Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, et al. Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy. Neuromuscul Disord. 2002;12:151–158
  2. Lehtokari V-L, Ceuterick-de Groote C, de Jonghe P, Martilla M, Laing NG, Pelin K, et al. Cap disease caused by heterozygous mutation of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007;17:433–442
  3. Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol. 2007;61:552–561
  4. Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006;59:546–552
  5. Clarke NF, Smith RL, Bahlo M, North KN. A novel X-linked form of congenital fiber-type disproportion. Ann Neurol. 2005;58:767–772

PII: S0960-8966(08)00592-0

doi: 10.1016/j.nmd.2008.07.007

Neuromuscular Disorders
Volume 18, Issue 12 , Page 1005 , December 2008

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