Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 31/08/2006
Symbol PFKL
Location 21q22.3
Name hemolytic anemia with myopathy
Corresponding gene PFKL
Main clinical features 5 major groups: . I the classic syndrome of simultaneous myopathy and hemolysis (see . II isolated myopathy . III hemolysis only . IV asymptomatic partial deficiency of red cell PFK . and Vprogressive, fatal myopathy with other atypical features
Genetic determination autosomal recessive
Function/system disorder hematology
Type disease
Gene product
Name phosphofructokinase, liver type (PFKL)