Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27-06-2017

Symbol	PGBM1
Location	20p13
Name	polyglucosan body myopathy 1 with or without immunodeficiency
Corresponding gene	RBCK1
Main clinical features	onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases and any patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)