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Autosomal recessive limb-girdle muscular dystrophy type 2M(LGMD2M; MDDGC4; LGMDR13)

MedGen UID:
370585
Concept ID:
C1969040
Disease or Syndrome
Synonyms: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
SNOMED CT: Autosomal recessive limb girdle muscular dystrophy type 2M (726618007)
Modes of inheritance:
 
FKTN (9q31.2)
 
Monarch Initiative: MONDO:0012699
OMIM®: 611588
Orphanet: ORPHA206554

Definition

MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive limb-girdle muscular dystrophy type 2M

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