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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
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DOI：10.1002/acn3.70361.png)
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Abstract
En 中文
Sarcoglycanopathies are among the most severe limb-girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype–phenotype correlations. This study aimed to establish accurate genotype–phenotype correlations for LGMDR3, LGMDR4, and LGMDR5.
Keywords:
disease progression
genotype–phenotype correlation
prognosis
sarcoglycanopathies
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