Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2
VL Lehtokari, C Ceuterick-de Groote… - Neuromuscular …, 2007 - Elsevier
“Cap myopathy” or “cap disease” is a congenital myopathy characterised by cap-like
structures at the periphery of muscle fibres, consisting of disarranged thin filaments with
enlarged Z discs. Here we report a deletion in the β-tropomyosin (TPM2) gene causing cap
disease in a 36-year-old male patient with congenital muscle weakness, myopathic facies
and respiratory insufficiency. The mutation identified in this patient is an in-frame deletion (c.
415_417delGAG) of one codon in exon 4 of TPM2 removing a single glutamate residue (p …
structures at the periphery of muscle fibres, consisting of disarranged thin filaments with
enlarged Z discs. Here we report a deletion in the β-tropomyosin (TPM2) gene causing cap
disease in a 36-year-old male patient with congenital muscle weakness, myopathic facies
and respiratory insufficiency. The mutation identified in this patient is an in-frame deletion (c.
415_417delGAG) of one codon in exon 4 of TPM2 removing a single glutamate residue (p …