Details of Disease | DrugMAP

General Information of Disease (ID: DISOL099)

Disease Name	Autosomal recessive limb-girdle muscular dystrophy type 2J
Synonyms	limb-girdle muscular dystrophy type 2J; muscular dystrophy, limb-girdle, type 2J; autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN; LGMD2J; TTN autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy, limb-girdle, autosomal recessive 10
Definition	Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Disease Hierarchy	DISN5GSL: Autosomal recessive titinopathy DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy DISOL099: Autosomal recessive limb-girdle muscular dystrophy type 2J
Disease Identifiers	MONDO ID MONDO_0012127 MESH ID C563854 UMLS CUI C1837342 OMIM ID 608807 MedGen ID 324741 Orphanet ID 140922 SNOMED CT ID 725042001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTN	OT0LZ058	Strong	Autosomal recessive	[1]
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References

1	Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?. J Med Genet. 1992 Jun;29(6):383-9. doi: 10.1136/jmg.29.6.383.