Invited Review: Hereditary myopathies associated with hematological abnormalities-Article

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This document discusses hereditary myopathies associated with hematological abnormalities, including neutral lipid storage diseases, tubular aggregate myopathy, phosphoglycerate kinase deficiency, sideroblastic anemia, and Barth syndrome. NLSD is characterized by lipid accumulation and symptoms such as myopathy and cardiomyopathy. TAM is associated with thrombocytopenia and calcium ion handling gene mutations. PGK deficiency causes hemolytic anemia and myopathy. Sideroblastic anemia can be linked to myopathy. Barth syndrome is characterized by cardiomyopathy, neutropenia, and skeletal myopathy. Understanding these associations can aid in diagnosis and management, but more research is needed.

Keywords

hereditary myopathies

hematological abnormalities

neutral lipid storage diseases

tubular aggregate myopathy

phosphoglycerate kinase deficiency

sideroblastic anemia

Barth syndrome

lipid accumulation

myopathy

cardiomyopathy