{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:52:48Z","timestamp":1793040768224,"version":"4.5.0"},"reference-count":43,"publisher":"BMJ","issue":"5","license":[{"start":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T00:00:00Z","timestamp":1729728000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"accepted":{"date-parts":[[2024,8,27]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Myosin heavy chain 7 (\n                      <jats:italic>MYH7<\/jats:italic>\n                      )-related myopathies (\n                      <jats:italic>MYH7<\/jats:italic>\n                      -RMs) are a group of muscle disorders linked to pathogenic variants in the\n                      <jats:italic>MYH7<\/jats:italic>\n                      gene, encoding the slow\/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57\n                      <jats:italic>MYH7<\/jats:italic>\n                      patients. Patients received a thorough neurological (n=57, 100%), cardiac (n=51, 89%) and respiratory (n=45, 79%) assessment. Muscle imaging findings and muscle biopsies were reappraised in 19 (33%) and 27 (47%) patients, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified three phenotypes with varying degrees of overlap: distal myopathy (70%), scapuloperoneal (23%) and axial with peculiar cervical spine rigidity called the \u2018sphinx\u2019 phenotype (7%). 14% of patients had either dilated cardiomyopathy, hypertrophic cardiomyopathy or left ventricular non-compaction cardiomyopathy. 31% of patients had prominent respiratory involvement, including all patients with the \u2018sphinx\u2019 phenotype. Muscle MRI showed involvement of tibialis anterior, followed by quadriceps, and erector spinae in patients with axial phenotype. Cores represented the most common myopathological lesion. We report 26 pathogenic variants of\n                      <jats:italic>MYH7<\/jats:italic>\n                      gene, 9 of which are novel.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>MYH7<\/jats:italic>\n                      -RMs have a large phenotypic spectrum, including distal, scapuloperoneal or axial weakness, and variable cardiac and respiratory involvement. Tibialis anterior is constantly and precociously affected both clinically and on muscle imaging. Cores represent the most common myopathological lesion. Our detailed description of\n                      <jats:italic>MYH7<\/jats:italic>\n                      -RMs should improve their recognition and management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jnnp-2024-334263","type":"journal-article","created":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T13:20:16Z","timestamp":1729776016000},"page":"453-461","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["<i>MYH7<\/i>\n                    -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French 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