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GENATLAS PHENOTYPE

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)