novel ldb۳ mutation in a patient with autosomal dominant myofibrillar myopathy

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a...

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

BACKGROUND Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or inter...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

Autosomal dominant hypocalcaemia: A novel mutation.

1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. ...