Article
The molecular diagnosis of metabolic myopathies.
Neurologic clinics - 1 Feb 2000
Vladutiu G D
Abstract excerpt
The metabolic myopathies are distinguished by extensive clinical and genetic heterogeneity within and between individual disorders. There are a number of explanations for the variability observed that go beyond single gene mutations or degrees of heteroplasmy in the case of mitochondrial DNA mutations. Some of the contributing factors include protein subunit interactions, tissue-specificity, modifying genetic...
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