Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive limb-girdle muscular dystrophy type 2H

Also known as: LGMD2H, Sarcotubular myopathy, TRIM32 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32, autosomal recessive limb-girdle muscular dystrophy type 2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, limb-girdle muscular dystrophy type 2H, muscular dystrophy Hutterite type, muscular dystrophy limb-girdle type 2H, muscular dystrophy, Hutterite type, muscular dystrophy, limb-girdle, autosomal recessive 8, muscular dystrophy, limb-girdle, type 2H, sarcotubular myopathy

autosomal recessive limb-girdle muscular dystrophy type 2I

Also known as: FKRP autosomal recessive limb-girdle muscular dystrophy, LGMD-FKRP related, LGMD2I, MDDGC5, autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP, limb-girdle muscular dystrophy due to FKRP deficiency, limb-girdle muscular dystrophy type 2I, muscular dystrophy limb-girdle type 2I, muscular dystrophy, limb-girdle, type 2I, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, muscular dystrophy-dystroglycanopathy (limb-girdle), type C5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related, muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related

autosomal recessive limb-girdle muscular dystrophy type 2J

Also known as: LGMD2J, TTN autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN, limb-girdle muscular dystrophy type 2J, muscular dystrophy, limb-girdle, autosomal recessive 10, muscular dystrophy, limb-girdle, type 2J

autosomal recessive limb-girdle muscular dystrophy type 2K

Also known as: LGMD-POMT1 related, LGMD2K, MDDGC1, POMT1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1, limb-girdle muscular dystrophy - intellectual disability, limb-girdle muscular dystrophy type 2K, limb-girdle muscular dystrophy-intellectual disability syndrome, muscular dystrophy limb-girdle type 2K, muscular dystrophy, limb-girdle, type 2K, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1

autosomal recessive limb-girdle muscular dystrophy type 2L

Also known as: ANO5 autosomal recessive limb-girdle muscular dystrophy, LGMD2L, autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5, limb-girdle muscular dystrophy type 2L, muscular dystrophy, limb-girdle, autosomal recessive 12, muscular dystrophy, limb-girdle, type 2L

autosomal recessive limb-girdle muscular dystrophy type 2M

Also known as: FKTN autosomal recessive limb-girdle muscular dystrophy, LGMD-FKTN related, LGMD2M, MDDGC4, autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN, limb-girdle muscular dystrophy type 2M, muscular dystrophy, limb-girdle, type 2M, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4

autosomal recessive limb-girdle muscular dystrophy type 2N

Also known as: LGMD-POMT2 related, LGMD2N, MDDGC2, POMT2 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2, limb-girdle muscular dystrophy type 2N, muscular dystrophy, limb-girdle, type 2N, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related, muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related

autosomal recessive limb-girdle muscular dystrophy type 2P

Also known as: DAG1 autosomal recessive limb-girdle muscular dystrophy, LGMD2P, MDDGC9, autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1, limb-girdle muscular dystrophy type 2P, muscular dystrophy, limb-girdle, type 2P, muscular dystrophy-dystroglycanopathy (limb-girdle) type C9, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related, muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related

autosomal recessive limb-girdle muscular dystrophy type 2R1

Also known as: LGMD2Z, POGLUT1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1, autosomal recessive limb-girdle muscular dystrophy type 2Z, limb-girdle muscular dystrophy type 2Z, muscular dystrophy, limb-girdle, autosomal recessive 21, muscular dystrophy, limb-girdle, type 2Z

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