Muscular dystrophy-dystroglycanopathy, limb-girdle, type c, 7
Symptoms List: Muscular dystrophy-dystroglycanopathy, limb-girdle, type c, 7
Symptoms and clinical features may include:1 Clinical Features of Muscular dystrophy-dystroglycanopathy, limb-girdle, type c, 7:
- Autosomal recessive inheritance
- Macroglossia
- Elevated serum creatine phosphokinase
- Slow progression
- Scapular winging
- Limb-girdle muscular dystrophy
- Calf muscle hypertrophy
- Hypoglycosylation of alpha-dystroglycan
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Diagnosis
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Treatments
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Causes
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Similar Topic Articles
- Muscular dystrophy-dystroglycanopathy
- Muscular dystrophy
- Dystroglycanopathy
- Limb-girdle muscular dystrophy
Names and Terminology
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U
...Source: GTR (NCBI/NIH)2
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References
- Source: Human Phenotype Ontology
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ CN220058/
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