Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic <i>TTN-</i> related myopathy
Here we find that despite considerable complexity, the pattern of muscle involvement on MRI and ultrasound may aid in the confirmation of <i>TTN</i>-RM by establishing compatibility with the diagnosis.
Authors
- D. Bharucha-Goebel
- Leslie H. Hayes (ORCID: https://orcid.org/0000-0002-0237-1978)
- Carla Grosmann (ORCID: https://orcid.org/0000-0002-4752-0797)
- ST Iannaccone
- J Dastgir
- C. Bönnemann
- Sarah Neuhaus (ORCID: https://orcid.org/0000-0002-7739-1308)
- Sandra C. Donkervoort (ORCID: https://orcid.org/0000-0001-6399-1444)
- AH Beggs
- Carole Vuillerot (ORCID: https://orcid.org/0000-0003-4995-0202)
- Payam Mohassel (ORCID: https://orcid.org/0000-0001-5313-9514)
- M. Leach (ORCID: https://orcid.org/0009-0007-5599-3512)
- A. Reghan Foley (ORCID: https://orcid.org/0000-0003-2168-1119)
Institutions
- Boston Children's Hospital (US)
- National Institutes of Health (US)
- Children's National (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Oregon Health & Science University (US)
- Johns Hopkins Medicine (US)
- University of California San Diego (US)
- Hôpital Femme Mère Enfant (FR)
- Rady Children's Hospital-San Diego (US)
- Southwestern Medical Center (US)
- Hospices Civils de Lyon (FR)
- Goryeb Children's Hospital (US)
- National Institute of Neurological Disorders and Stroke (US)
- Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
- Southwestern Medical Center (US)
- Atlantic Health System (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2024-11-01
- DOI
- https://doi.org/10.1177/22143602241283391
- Citations
- 3
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.21