Last update 19 Sep 2024

Sarcoglycanopathies

Basic Info

Synonyms
ADHALINOPATHY, PRIMARY, Adhalinopathies, Adhalinopathies, Primary
+ [42]
Introduction
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.

Analysis

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