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Akademický článek

Feline dystrophin-deficient muscular dystrophy misdiagnosed as myositis

Autor: Rachel M Reynolds, Stanley L Marks, Ling T Guo, G. Diane Shelton, Karina J Graham

Publikováno v: Journal of Feline Medicine and Surgery Open Reports, Vol 10 (2024)

Case summary A 6-month-old male entire domestic shorthair cat presented for presumptive Toxoplasma myopathy that was non-responsive to antiprotozoal therapy. Clinical features included marked macroglossia, dysphagia, regurgitation, truncal muscle hyp

Externí odkaz: https://doaj.org/article/8b72742268644f91941e0703d8c72792

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Akademický článek

Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat

Autor: G. Diane Shelton, Fabrizio Tucciarone, Ling T. Guo, Lyndon M. Coghill, Leslie A. Lyons

Publikováno v: Journal of Veterinary Internal Medicine, Vol 38, Iss 1, Pp 135-144 (2024)

Abstract Background Muscular dystrophies (MDs) are a large, heterogeneous group of degenerative muscle diseases. X‐linked dystrophin‐deficient MD in cats is the first genetically characterized cat model for a human disease and a few novel forms h

Externí odkaz: https://doaj.org/article/09b39a86188e450caec7328ebde389b7

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Akademický článek

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy

Autor: Leanne Jankelunas, Vishal D. Murthy, Annie V. Chen, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, James R. Mickelson, G. Diane Shelton

Publikováno v: Journal of Veterinary Internal Medicine, Vol 37, Iss 6, Pp 2504-2509 (2023)

Abstract Two (male and female) 10‐month‐old American Staffordshire Terrier littermates presented for progressive weakness, joint contracture, and distal limb joint hyperlaxity beginning around 6 months of age. Neurological examination, serum crea

Externí odkaz: https://doaj.org/article/f3c83482d85b43f59e1a68d6e475422c

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Akademický článek

Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia

Autor: G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Jaya M. Mehra, Ling T. Guo, Katie M. Minor

Publikováno v: Animals, Vol 14, Iss 13, p 1946 (2024)

(1) Background: An adult dog was presented to a board-certified veterinary neurologist for evaluation of chronic weakness, exercise intolerance and lactic acidemia. (2) Methods: A mitochondrial myopathy was diagnosed based on the histological and his

Externí odkaz: https://doaj.org/article/8306b66247034c338b78eaf8bd088e42

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Akademický článek

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Akademický článek

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

Autor: G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Karina Graham, Missy C. Carpentier, Ling T. Guo, Katie M. Minor

Publikováno v: Animals, Vol 14, Iss 5, p 722 (2024)

(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin,

Externí odkaz: https://doaj.org/article/947818bb5857493f87c8ec749651941d

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