{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:37:44Z","timestamp":1790206664029,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond Street Hospital. Findings were compared to clinical data and MRI patterns derived from collated published data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010seven patients with MRI were identified (8 <jats:italic>NEB<\/jats:italic>\u2010NM, 13 <jats:italic>ACTA1<\/jats:italic>\u2010NM, 6 <jats:italic>TPM3<\/jats:italic>\u2010NM). <jats:italic>NEB<\/jats:italic>\u2010NM demonstrated sparing of the thigh. <jats:italic>ACTA<\/jats:italic>1\u2010NM demonstrated diffuse thigh involvement, notable in the vasti, sartorius and biceps\u2010femoris, with relative adductor and gracilis sparing. <jats:italic>TPM3<\/jats:italic>\u2010NM demonstrated diffuse thigh involvement notable in biceps\u2010femoris and adductor magnus with relative rectus femoris, adductor longus and gracilis sparing. In the lower leg, the soleus and tibialis anterior are notably involved in all three genotypes. <jats:italic>NEB<\/jats:italic>\u2010NM and <jats:italic>ACTA1<\/jats:italic>\u2010NM demonstrated relative gastrocnemii and tibialis posterior sparing, while <jats:italic>TPM3<\/jats:italic>\u2010NM showed significantly more tibialis posterior involvement (<jats:italic>P<\/jats:italic>\u2009=&lt;\u20090.05). Comparison of involvement patterns with literature datasets highlighted preferential adductor and gracilis sparing in our <jats:italic>ACTA1<\/jats:italic>\u2010NM cohort, consistent tibialis posterior involvement in our <jats:italic>TPM3<\/jats:italic>\u2010NM cohort and a distinct MRI pattern from those derived from other NM genotypes and congenital myopathies. Greater tibialis anterior involvement correlated with foot drop (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Greater tibialis anterior and extensor hallucis longus involvement correlated with worse mobility (<jats:italic>P<\/jats:italic>\u2009=&lt;\u20090.04).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This is the widest NM MRI data set described to date; we describe distinct muscle involvement patterns for <jats:italic>NEB<\/jats:italic>\u2010NM, <jats:italic>ACTA1<\/jats:italic>\u2010NM and <jats:italic>TPM3<\/jats:italic>\u2010NM which may have utility as diagnostic and prognostic biomarkers and aid in genetic variant interpretation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51816","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T14:37:06Z","timestamp":1685716626000},"page":"1219-1229","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Muscle magnetic resonance imaging involvement patterns in nemaline myopathies"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6442-1002","authenticated-orcid":false,"given":"Luke","family":"Perry","sequence":"first","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London  London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London  London UK"},{"name":"MRC International Centre for Genomic Medicine in Neuromuscular Diseases  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Stimpson","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leeha","family":"Singh","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper M.","family":"Morrow","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachit","family":"Shah","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London  London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London  London UK"},{"name":"MRC International Centre for Genomic Medicine in Neuromuscular Diseases  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London  London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London  London UK"},{"name":"MRC International Centre for Genomic Medicine in 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