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- W2018073556 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 26 year 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. The patient had atrophy of the tibialis anterior muscles and bilateral weakness of the tibialis anterior (1/5 MRC) and peronei muscles (4/5 MRC) and she walked with a bilateral steppage gait. The Achilles tendon reflexes were abolished. The Gowers’ maneuver was negative. The CK value was moderately elevated. EMG of the tibialis anterior and peroneus longus muscles showed a myopathic pattern. Muscle MRI revealed a marked and symmetrical atrophy and fat infiltration of the legs’ anterolateral compartment muscles and of the soleus muscles. Histological examination of the left deltoid muscle showed signs of a moderate myopathic lesion. Molecular study identified the homozygous mutation g.293376delA (p.K33395NfsX8) in exon 363 of the TTN gene. The first Portuguese patient with muscle disease caused by a TTN gene mutation presented the same mutation reported in distal myopathy patients from Spain and thus represents an Iberian founder mutation. It is also the first time a homozygous C-terminal TTN gene mutation is not associated with the rarer LGMD-phenotype. The reason for the lower penetrance in the parents and the formally recessive type of distal myopathy in the proband is under study using gene and protein expression assays." @default.
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- W2018073556 date "2011-10-01" @default.
- W2018073556 modified "2023-09-22" @default.
- W2018073556 title "P2.60 Distal myopathy caused by a homozygous mutation in the titin gene" @default.
- W2018073556 doi "https://doi.org/10.1016/j.nmd.2011.06.882" @default.
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