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1.
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization.
Rev Neurol (Paris)
; 174(10): 752-755, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-29628183
2.
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Clin Case Rep
; 9(9): e04128, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34484741
3.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33749658
4.
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.
Neuromuscul Disord
; 30(10): 833-838, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32988710
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