" /> Congenital myopathy 13 - CISMeF





Preferred Label : Congenital myopathy 13;

Symbol : CMYO13;

CISMeF acronym : MYPBB; NAM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Native american myopathy; Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia; NAM; MYPBB; Myopathy, congenital, bailey-bloch;

Description : Native American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina (summary by Stamm et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SH3 and cysteine-rich domains 3 gene (STAC3, 615521.0001);

Laboratory abnormalities : Serum creatine kinase may be increased; Increased prevalence among the Native American Lumbee Indians;

Prefixed ID : #255995;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.