Table 3.

TTN Allelic Disorders

DisorderPhenotype
Autosomal recessive limb-girdle muscular dystrophy LGMDR10, titin-related (OMIM 608807)Early-onset severe limb-girdle muscular dystrophy phenotype
Hereditary myopathy with early respiratory failure Presenting findings are gait disturbance due to distal &/or proximal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness
Dilated cardiomyopathy Increased risk of dilated cardiomyopathy
Hypertrophic cardiomyopathy Rare cause of hypertrophic cardiomyopathy
Adult-onset proximal lower-limb rimmed vacuolar muscular dystrophy 1
Early- or juvenile-onset recessive distal titinopathy 2
Congenital titinopathy w/or w/out cardiomyopathy 3Multiple phenotypes, from fetal lethality w/arthrogryposis to nonprogressive myopathy incl Salih myopathy

From: Udd Distal Myopathy – Tibial Muscular Dystrophy

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