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Qualitative or quantitative defects of dysferlin

MedGen UID:: 419874
•Concept ID:: C2931687
•: Disease or Syndrome

Synonym:	Dysferlinopathy

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	DYSF

Monarch Initiative:	MONDO:0016145
Orphanet:	ORPHA207073

Authors:

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb-girdle muscular dystrophy
- CROGVAutosomal recessive limb-girdle muscular dystrophy
- CROGVMuscular dystrophy, limb-girdle, autosomal dominant

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the musculature of the limbs
    - Limb-girdle muscle atrophy
      - Limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy
        Qualitative or quantitative defects of dysferlin
        Autosomal recessive limb-girdle muscular dystrophy type 2B
        Congenital myopathy, Paradas type
        Distal myopathy with anterior tibial onset
        Miyoshi muscular dystrophy 1
        Miyoshi myopathy

Professional guidelines

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Qualitative or quantitative defects of dysferlin

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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