Abstract
Muscle disease causing mutations in the titin gene (TTN) were first identified in Finland. They are responsible for two main phenotypes: the AD late onset distal myopathy and the AR early onset limb-girdle muscular dystrophy. We report a Portuguese patient with the clinical phenotype of distal myopathy caused by a homozygous mutation in the TTN gene. The patient is a 26year old Caucasian female, the only child of a clinically normal first degree consanguineous couple. At the age of 22, she started to complain of weakness in the lower limbs.
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