{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:07:07Z","timestamp":1790384827827,"version":"4.1.0"},"reference-count":170,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The diagnostic evaluation of a patient with suspected hereditary muscle disease can be challenging. Clinicians rely largely on clinical history and examination features, with additional serological, electrodiagnostic, radiologic, histopathologic, and genetic investigations assisting in definitive diagnosis. Hematological testing is inexpensive and widely available, but frequently overlooked in the hereditary myopathy evaluation. Hematological abnormalities are infrequently encountered in this setting; however, their presence provides a valuable clue, helps refine the differential diagnosis, tailors further investigation, and assists interpretation of variants of uncertain significance. A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalities, and thrombocytopenia. Recurrent rhabdomyolysis in certain glycolytic enzymopathies co\u2010occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever\u2010associated in aldolase\u2010A and triosephosphate isomerase deficiency. Sideroblastic anemia, commonly severe, accompanies congenital\u2010to\u2010childhood onset mitochondrial myopathies including Pearson marrow\u2010pancreas syndrome and mitochondrial myopathy, lactic acidosis, and sideroblastic anemia phenotypes. Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize <jats:italic>SFXN4\u2010<\/jats:italic>related myopathy. Neutropenia, chronic or cyclical, with recurrent infections, infantile\u2010to\u2010childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome, while chronic neutropenia without infection occurs rarely in <jats:italic>DNM2<\/jats:italic>\u2010centronuclear myopathy. Peripheral eosinophilia may accompany eosinophilic inflammation in recessive calpainopathy. Lipid accumulation in leukocytes on peripheral blood smear (Jordans' anomaly) is pathognomonic for neutral lipid storage diseases. Mild thrombocytopenia occurs in autosomal dominant, childhood\u2010onset <jats:italic>STIM1<\/jats:italic> tubular aggregate myopathy, <jats:italic>STIM1<\/jats:italic> and <jats:italic>ORAI1<\/jats:italic> deficiency syndromes, and <jats:italic>GNE<\/jats:italic> myopathy. Herein, we review these hereditary myopathies in which hematological features play a prominent role.<\/jats:p>","DOI":"10.1002\/mus.27474","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T12:39:54Z","timestamp":1641386394000},"page":"374-390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Hereditary myopathies associated with hematological abnormalities"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-1796","authenticated-orcid":false,"given":"Grayson","family":"Beecher","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Medicine, Department of Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark D.","family":"Fleming","sequence":"additional","affiliation":[{"name":"Department of Pathology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0212-5697","authenticated-orcid":false,"given":"Teerin","family":"Liewluck","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Medicine, Department of Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"Harrison's Principles of Internal Medicine, 20e","author":"Luzzatto 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