Genetic Analysis of Rare Congenital Muscular Dystrophy Disorders: A Three-Year Cohort Study

Background and aim: muscular dystrophies are a heterogeneous group of inherited progressive disorders of muscle characterized by destruction of muscle and its replacement by fatty and fibrous tissue. muscle weakness is a major manifestation and often has an early onset, but initial symptoms may also be reported in early or even late adulthood. in this cohort study we aim determined to perform exome sequencing on the patients with muscular dystrophy and myopathy disease, in 100 families.methods: families with autosomal recessive pattern compatible with genetic disorders such as progressive muscular weakness, myopathy, heart failure, hypotonia, congenital myotonic, muscular dystrophy, limb-girdle muscular dystrophy, have been conducted. a complete clinical and paraclinical examination has been done by expert specialists and clinical geneticist. genomic dna was extracted and evaluated through next for the candidate gene variants.results: we described our study on 100 families with familial congenital muscle dystrophy and aim to explain our broad research on identification of novel variants in the following genes (ano5, capn3, fkrp, ldb3, sgca, sgcb, sgcg, syne1, syne2, gne, col6a1, col6a2, pomt1, ryr1, gyg1, dsc2). at the present time, powerful sequencing techniques are identifying large numbers of genetic variants associated with unique phenotypes.conclusion: the progression in diagnosis of muscular dystrophy disorders has undergone considerable in the past decade, for understanding phenotype definition and underlying disease mechanisms, we have demonstrated that exome sequencing as a high throughput molecular technique has rapidly become a component of the clinical approach that require a broad search for causal variants across the spectrum of genetically heterogeneous mendelian disorders