Thelansis

 Limb-girdle muscular dystrophies (LGMDs) encompass a set of muscle disorders with varying inheritance patterns, either autosomal dominant (referred to as LGMD type 1) or autosomal recessive (known as LGMD type 2). The fukutin-related protein gene (FKRP; OMIM 606596) plays a significant role in developing both LGMD2I and congenital muscular dystrophy 1C. FKRP transcripts are predominantly expressed in skeletal muscle, the placenta, and the heart. Altered α-dystroglycan protein expression patterns have been observed in muscle biopsies of LGMD2I patients, indirectly suggesting that FKRP, a potential glycosyltransferase, is necessary for post-translational dystroglycan modification. Diagnosis typically concerns the clinical presentation, characterized by proximal muscle wasting and weakness, particularly in the lower limbs. The primary diagnostic criterion involves the identification of two pathogenic variants in the FKRP gene. Creatine kinase levels are usually elevated, exceeding 1,...

 Limb-girdle muscular dystrophies (LGMDs) are a group of muscle diseases whose mode of inheritance may be either autosomal dominant (LGMD type 1) or autosomal recessive (LGMD type 2). The fukutin-related protein gene (FKRP; OMIM 606596) is implicated in causing both LGMD2I and congenital muscular dystrophy 1C. The FKRP transcript is expressed predominantly in the skeletal muscle, placenta, and heart. Abnormalities in the expression pattern of the α-dystroglycan protein have been demonstrated in muscle biopsies of LGMD2I patients, indirectly suggesting that FKRP, a putative glycosyltransferase, is required for the post-translational modification of dystroglycan. Thelansis’s “Limb-Girdle Muscular Dystrophy Type 2i (LGMD2i) Market Outlook, Epidemiology , Competitive Landscape , and Market Forecast Report – 2021 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share,...