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Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
X-linked myotubular and centronuclear myopathies.
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Myopathies, Structural, Congenital
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Myopathies Structural Congenital