Endocrine Abstracts

Limb-girdle muscular dystrophies are a heterogeneous group of disorders regarding both their phenotypes and their underlying genetic causes. One of these defects is limb-girdle muscular dystrophy type 2J (LGMD2J), which has an unknown prevalence. Our aim is to describe clinical features an evolution of a novel case of this rare condition. Our patient is female, aged 29 from a non-consanguine family bearing features of limb-girdle muscular dystrophy. The first signs of this affection appeared around age 13 and gradually worsened, leading this patient to be unable to walk 10 years after onset. Her brother actually displayed a similar symptomatology and her father presented with lower limb muscular weakness that begun at age 30. Genetic analysis revealed the presence of a compound heterozygous TTN mutation c.4261C>T and c.65672C>T winch confirms diagnoses of LGMD2J. Family members will be tested for these two mutations in order to confirm the father’s diagnosis of tibial muscular dystrophy and to provide appropriate genetic counselling to this family. Disorders caused by pathogenic TTN variants are a large and heterogeneous group of muscular dystrophies. Among these are both LGMD2J and tibial muscular dystrophy. Furthermore, TTN gene, that codes for protein titin, is one of the main genes involves in dilated cardiomyopathies, which have a prevalence of 17%. Considering that physiopathology of these disorders remains unknown, it seems therefore very important to report such disorders so as to improve their diagnosis and to obtain a better genotype phenotype correlation regarding TTN variants.