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Polyglucosan body myopathy type 1(PGBM1)

MedGen UID:
863042
Concept ID:
C4014605
Disease or Syndrome
Synonyms: PGBM1; Polyglucosan body myopathy 1 with or without immunodeficiency; POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY
SNOMED CT: PGBM1 - polyglucosan body myopathy type 1 (774148007); Polyglucosan body myopathy type 1 (774148007)
Modes of inheritance:
 
RBCK1 (20p13)
 
Monarch Initiative: MONDO:0014389
OMIM®: 615895
Orphanet: ORPHA397937

Definition

Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by 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. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body Myopathy See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24. [from OMIM]

Clinical features

From HPO

Supplemental Content

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