User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Autosomal-Recessive Limb-Girdle Muscular Dystrophy Caused by FKRP Mutations
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Autosomal-recessive limb-girdle muscular dystrophy caused by FKRP mutations is a genetic muscle disease. It weakens the muscles around the hips, thighs, ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I)
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Autosomal recessive limb-girdle muscular dystrophy type 2I is a genetic muscle disease. It mainly weakens the muscles around the hips and shoulders. These are ...

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TRIM32-Related Limb Girdle Muscular Dystrophy R8 (LGMDR8)
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TRIM32-related limb-girdle muscular dystrophy R8 (LGMDR8) is a rare, inherited muscle disease. It mainly weakens the large muscles around the hips and ...

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TRIM32 Autosomal-Recessive Limb-Girdle Muscular Dystrophy
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TRIM32 autosomal-recessive limb-girdle muscular dystrophy is a rare genetic muscle disease in which both copies of a person’s TRIM32 gene carry harmful changes ...

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Muscular Dystrophy Hutterite Type
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Muscular dystrophy, Hutterite type is a rare, inherited muscle disease caused by harmful changes (pathogenic variants) in a gene called TRIM32. It produces ...

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Limb-Girdle Muscular Dystrophy Due to TRIM32 Deficiency (LGMDR8)
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Limb-girdle muscular dystrophy due to TRIM32 deficiency (LGMDR8) is a rare, inherited muscle disease. It mainly weakens the muscles around the hips and ...

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Hutterite-Type Muscular Dystrophy
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Hutterite-type muscular dystrophy is a rare, inherited muscle disease. It mainly weakens the muscles around the hips and shoulders (the “limb-girdle” muscles). ...

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Sarcotubular Myopathy
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Sarcotubular myopathy is a rare, inherited muscle disease. It usually runs in families in an autosomal recessive way and is most often caused by harmful ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Caused by Mutation in TRIM32
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TRIM32-related limb-girdle muscular dystrophy is a rare, inherited muscle disease. It mainly weakens the limb-girdle muscles—the muscles around your hips and ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H (LGMD2H)
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Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a rare, inherited muscle disease caused by biallelic (two-copy) variants in the TRIM32 ...

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Telethoninopathy
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Telethoninopathy is a rare inherited muscle disease caused by harmful changes (pathogenic variants) in the TCAP gene, which makes a small protein called ...

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Telethonin-Related Limb-Girdle Muscular Dystrophy R7
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Telethonin-related limb-girdle muscular dystrophy R7 is a rare, inherited muscle disease. It mainly weakens the muscles around the hips and shoulders. It ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Caused by TCAP (Telethonin) Mutations
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Telethonin-related limb-girdle muscular dystrophy is a rare, inherited muscle disease. It weakens the muscles around the hips and shoulders (the “limb ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G (LGMD2G)
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G (LGMD2G) is a rare, inherited muscle disease. It weakens the muscles around the hips and shoulders ...

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Delta Sarcoglycanopathy
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Delta-sarcoglycanopathy is a rare, inherited muscle disease. It mostly weakens the large muscles around the hips, thighs, shoulders, and upper arms. The ...

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Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency
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Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency is a rare, inherited muscle disease. It happens when changes (mutations) in a gene called ...

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Delta-Sarcoglycan–Related Limb-Girdle Muscular Dystrophy R6 (LGMDR6)
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Delta-sarcoglycan–related limb-girdle muscular dystrophy R6 (LGMDR6) is a rare, inherited muscle disease. It weakens the large muscles around the hips, thighs, ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Caused by Mutation in the SGCD Gene
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Caused by Mutation in the SGCD Gene is a rare inherited muscle disease. It slowly damages the muscles around ...

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F)
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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) / LGMDR6 is a rare, inherited muscle disease that mainly weakens the muscles of the ...

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Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency
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Limb-girdle muscular dystrophy from beta-sarcoglycan (SGCB) deficiency is a genetic muscle disease. It weakens the muscles close to the shoulders and hips ...

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