Details of Disease

General Information of Disease (ID: DIS690P3)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2Q
• Synonyms: limb-girdle muscular dystrophy type 2Q; LGMD2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; muscular dystrophy, limb-girdle, type 2Q; muscular dystrophy, limb-girdle, autosomal recessive 17
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
• Disease Hierarchy:
  DISXWQDY: Qualitative or quantitative defects of plectin
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DIS690P3: Autosomal recessive limb-girdle muscular dystrophy type 2Q
• Disease Identifiers:
  MONDO ID: MONDO_0013390
  UMLS CUI: C3150989
  OMIM ID: 613723
  MedGen ID: 462339
  Orphanet ID: 254361
  SNOMED CT ID: 726615005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLEC	OTU4XDEG	Strong	Autosomal recessive	[1]

References

• [1] Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India. Am J Med Genet A. 2022 Aug;188(8):2454-2459. doi: 10.1002/ajmg.a.62781. Epub 2022 May 17.