has material basis in germline mutation in TTN autosomal recessive limb-girdle muscular dystrophy type 2J https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_10 DOID:0110283 MONDO:0012127 muscular dystrophy, limb-girdle, autosomal recessive 10 autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN Orphanet:140922 UMLS:C1837342 OMIM:608807 TTN autosomal recessive limb-girdle muscular dystrophy GARD:0012534 LGMD2J MEDGEN:324741 MESH:C563854 limb-girdle muscular dystrophy type 2J muscular dystrophy, limb-girdle, type 2J 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. autosomal recessive limb-girdle muscular dystrophy autosomal recessive titinopathy