Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

C. Folland; R. Johnsen; A. Botero Gomez; D. Trajanoski; M. Davis; U. Moore; V. Straub; R. Barresi; M. Guglieri; H. Hayhurst; A. Schaefer; N. Laing; P. Lamont; G. Ravenscroft

doi:10.1016/j.nmd.2022.07.219

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

C. Folland, R. Johnsen, A. Botero Gomez, D. Trajanoski, M. Davis, U. Moore, V. Straub, R. Barresi, M. Guglieri, H. Hayhurst, A. Schaefer, N. Laing, P. Lamont, G. Ravenscroft

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

Original language	English
Pages (from-to)	S94-S95
Number of pages	2
Journal	Neuromuscular Disorders
Volume	32
DOIs	https://doi.org/10.1016/j.nmd.2022.07.219
Publication status	Published - Oct 2022
Event	27th International Congress of the World-Muscle-Society (WMS) - Halifax, Canada Duration: 11 Oct 2022 → 15 Oct 2022

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10.1016/j.nmd.2022.07.219

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Folland, C., Johnsen, R., Gomez, A. B., Trajanoski, D., Davis, M., Moore, U., Straub, V., Barresi, R., Guglieri, M., Hayhurst, H., Schaefer, A., Laing, N., Lamont, P., & Ravenscroft, G. (2022). Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. Neuromuscular Disorders, 32, S94-S95. https://doi.org/10.1016/j.nmd.2022.07.219

@article{257c6f78723342edb6b0657b0c3142d0,

title = "Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy",

author = "C. Folland and R. Johnsen and Gomez, {A. Botero} and D. Trajanoski and M. Davis and U. Moore and V. Straub and R. Barresi and M. Guglieri and H. Hayhurst and A. Schaefer and N. Laing and P. Lamont and G. Ravenscroft",

year = "2022",

month = oct,

doi = "10.1016/j.nmd.2022.07.219",

language = "English",

volume = "32",

pages = "S94--S95",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Pergamon",

note = "27th International Congress of the World-Muscle-Society (WMS) ; Conference date: 11-10-2022 Through 15-10-2022",

}

Folland, C, Johnsen, R, Gomez, AB, Trajanoski, D, Davis, M, Moore, U, Straub, V, Barresi, R, Guglieri, M, Hayhurst, H, Schaefer, A, Laing, N, Lamont, P & Ravenscroft, G 2022, 'Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy', Neuromuscular Disorders, vol. 32, pp. S94-S95. https://doi.org/10.1016/j.nmd.2022.07.219

TY - JOUR

T1 - Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

AU - Folland, C.

AU - Johnsen, R.

AU - Gomez, A. Botero

AU - Trajanoski, D.

AU - Davis, M.

AU - Moore, U.

AU - Straub, V.

AU - Barresi, R.

AU - Guglieri, M.

AU - Hayhurst, H.

AU - Schaefer, A.

AU - Laing, N.

AU - Lamont, P.

AU - Ravenscroft, G.

PY - 2022/10

Y1 - 2022/10

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000873062200215

U2 - 10.1016/j.nmd.2022.07.219

DO - 10.1016/j.nmd.2022.07.219

M3 - Abstract/Meeting Abstract

SN - 0960-8966

VL - 32

SP - S94-S95

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

T2 - 27th International Congress of the World-Muscle-Society (WMS)

Y2 - 11 October 2022 through 15 October 2022

ER -

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

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Research output

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

Cite this