EP.122Recurrent pneumothorax in an adult case of Ullrich congenital muscular dystrophy – case report and review of literature

Neuromuscular Disorders ◽

10.1016/j.nmd.2019.06.580 ◽

2019 ◽

Vol 29 ◽

pp. S203

Author(s):

M. Desikan ◽

R. Quinlivan ◽

R. Astin

Keyword(s):

Case Report ◽

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Review Of Literature ◽

Ullrich Congenital Muscular Dystrophy

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B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature

Fetal and Pediatric Pathology ◽

10.1080/15513815.2021.1982091 ◽

2021 ◽

pp. 1-6

Author(s):

Meenakshi Lallar ◽

Ladbans Kaur ◽

Meetan Preet ◽

U. P. Singh

Keyword(s):

Case Report ◽

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Review Of Literature

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Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

BMC Medical Genetics ◽

10.1186/1471-2350-14-59 ◽

2013 ◽

Vol 14 (1) ◽

Author(s):

Elena Martoni ◽

Stefania Petrini ◽

Cecilia Trabanelli ◽

Patrizia Sabatelli ◽

Anna Urciuolo ◽

...

Keyword(s):

Case Report ◽

Muscular Dystrophy ◽

Rare Case ◽

Congenital Muscular Dystrophy ◽

Terminal Domain ◽

Ullrich Congenital Muscular Dystrophy

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Perioperative Pulmonary Optimization With Average Volume-Assured Pressure Support of a Pediatric Patient With Ullrich Congenital Muscular Dystrophy: A Case Report

A & A Practice ◽

10.1213/xaa.0000000000001504 ◽

2021 ◽

Vol 15 (7) ◽

pp. e01504

Author(s):

Hannah Lovejoy ◽

Lauren Nicole Geib ◽

Camila B. Walters

Keyword(s):

Case Report ◽

Muscular Dystrophy ◽

Pediatric Patient ◽

Pressure Support ◽

Congenital Muscular Dystrophy ◽

Average Volume ◽

Ullrich Congenital Muscular Dystrophy

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Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v10.i1.338 ◽

2022 ◽

Vol 10 (1) ◽

pp. 338-344

Author(s):

Jun Hu ◽

Yan-Hui Chen ◽

Xin Fang ◽

Yu Zhou ◽

Feng Chen

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Clinical Manifestations ◽

Ullrich Congenital Muscular Dystrophy

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A rare case report: Bethlem myopathy and ullrich congenital muscular dystrophy

Journal of the Neurological Sciences ◽

10.1016/j.jns.2017.08.776 ◽

2017 ◽

Vol 381 ◽

pp. 272

Author(s):

P.R. Tamura ◽

R. Iegoroff ◽

L.P. Crotti ◽

A.J. Godoy

Keyword(s):

Case Report ◽

Muscular Dystrophy ◽

Rare Case ◽

Congenital Muscular Dystrophy ◽

Bethlem Myopathy ◽

Ullrich Congenital Muscular Dystrophy ◽

Rare Case Report

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COL6A1 related muscular dystrophy in Landseer dogs – a canine model for Ullrich congenital muscular dystrophy

Muscle & Nerve ◽

10.1002/mus.27162 ◽

2020 ◽

Author(s):

Jan Brands ◽

Frank Steffen ◽

Jochen Spennes ◽

Tosso Leeb ◽

Thomas Bilzer

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Canine Model ◽

Ullrich Congenital Muscular Dystrophy

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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2017.06.055 ◽

2017 ◽

Vol 27 ◽

pp. S106

Author(s):

A. Reghan Foley ◽

S. Donkervoort ◽

V. Bolduc ◽

Y. Hu ◽

B. Cummings ◽

...

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Distinct Phenotype ◽

Ullrich Congenital Muscular Dystrophy

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Ullrich Congenital Muscular Dystrophy (Ullrich disease)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_17718 ◽

2008 ◽

pp. 2059-2059

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Ullrich Congenital Muscular Dystrophy

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Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

Journal of Child Neurology ◽

10.1177/0883073817738466 ◽

2017 ◽

Vol 32 (14) ◽

pp. 1099-1103

Author(s):

Biswaroop Chakrabarty ◽

M. C. Sharma ◽

Sheffali Gulati ◽

Chitra Sarkar

Keyword(s):

Muscular Dystrophy ◽

Observational Study ◽

Skin Biopsy ◽

Congenital Muscular Dystrophy ◽

Ullrich Congenital Muscular Dystrophy

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C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.06.282 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 845

Author(s):

P. Richard ◽

C. Ledeuil ◽

C. Gartioux ◽

L. Torrieri ◽

L. Briñas ◽

...

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Ullrich Congenital Muscular Dystrophy

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