Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a group of genetically heterogeneous motor neuron disorders characterized by progressive, predominantly proximal weakness. Non-5q SMA refers to forms occurring without SMN1 pathogenic variants or deletions. More than half of non-5q SMA cases remain genetically unresolved, and muscle MRI may reveal characteristic patterns supporting diagnosis.
Authors
- Marina Konyukh (ORCID: https://orcid.org/0009-0006-1614-3235)
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Adrien Le Guillou (ORCID: https://orcid.org/0000-0002-4791-418X)
- Bruno Cadot (ORCID: https://orcid.org/0000-0002-1888-3898)
- Guillaume Bassez (ORCID: https://orcid.org/0000-0002-2044-1052)
- Pascal Laforêt (ORCID: https://orcid.org/0000-0002-4489-4718)
- Isabelle Ackermann-Bonan
- Yves Fromes (ORCID: https://orcid.org/0000-0002-6792-9549)
- Anthony Béhin (ORCID: https://orcid.org/0000-0001-7179-5152)
- Benjamin Marty (ORCID: https://orcid.org/0000-0002-4983-647X)
- Isabelle Quadrio (ORCID: https://orcid.org/0000-0001-6867-8238)
- Claire Lefeuvre (ORCID: https://orcid.org/0000-0001-6433-4980)
- Harmen Reyngoudt (ORCID: https://orcid.org/0000-0002-0777-2711)
- Alice Rouyer (ORCID: https://orcid.org/0000-0001-6322-2987)
- Édouard Berling (ORCID: https://orcid.org/0000-0001-6236-0616)
- Pascal Cintas (ORCID: https://orcid.org/0000-0002-0242-4849)
- Gorka Fernández‐Eulate (ORCID: https://orcid.org/0000-0003-1112-7464)
- Robert Carlier (ORCID: https://orcid.org/0000-0002-9417-0726)
- Marion Masingue (ORCID: https://orcid.org/0000-0002-4898-709X)
- Jean Baptiste Noury (ORCID: https://orcid.org/0009-0002-3917-9186)
- Guillaume Nicolas (ORCID: https://orcid.org/0009-0003-0026-4727)
Institutions
- Emory University (US)
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Centre Hospitalier Universitaire Henri-Mondor (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Laboratoire National de Référence (MA)
- Institut de Myologie (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Hôpital Raymond-Poincaré (FR)
- Hôpital Purpan (FR)
- Centre de Recherche en Myologie
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-08-26
- DOI
- https://doi.org/10.1212/nxg.0000000000200433
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00