Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss of function
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The TNNC2 gene is crucial for skeletal muscle function, and pathogenic variants have been linked to congenital myopathies characterized by hypotonia, muscle weakness, and respiratory insufficiency. To date, TNNC2-related myopathies have been associated only wi... ...
